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Basic Information

SAV Position Domain position
RS Q(SASA) Source Structural position

Pathogenicity / Stability Predictions

AlphaMissense (IC) AlphaMissense (N2AB)
CADD Condel DUET FATHMM M-CAP
mCSM MetaLR MetaSVM MPC MutationAssessor
MutationTaster MutPred MVP PolyPhen-2
PrimateAI PROVEAN REVEL Rhapsody SIFT

Disease Associations

Disease Zygosity Comments

Population Frequencies

Whole Population MAF African (AFR) Latin American (AMR)
Amish (AMS) Ashkenazi Jewish (ASJ) East Asian (EAS)
European/1KGP (EUR) Finnish (FIN) Middle Eastern (MDE)
Non-Finnish European (NFE) South Asian (SAS) Other (OTH)

Other Annotations

Site Annotation Predicted PPI site mCSM-PPI

10 20 30 40 50 60 70 80 90 100
V P S E P K N A R V T K V N K D C I F V A W D R P D S D G G S P I I G Y L I E R K E R N S L L W V K A N D T L V R S T E Y P C A G L V E G L E Y S F R I Y A L N K A G S S P P S K P T E Y V T A R M P V D P P G K P E V I D V T K S T V S L I W A R P K H D G G S K I I G Y F V E A C K L P G D K W V R C N T A P H Q I P Q E E Y T A T G L E E K A Q Y Q F R A I A R T A V N I S P P S E P S D P V T I L A E
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - P V D P P G K P E V I D V T K S T V S L I W A R P K H D G G S K I I G Y F V E A C K L P G D K W V R C N T A P H Q I P Q E E Y T A T G L E E K A Q Y Q F R A I A R T A V N I S P P S E P S D P V T I L A -

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
21757 1 P/S 1 rs1166497792 0.5021 None gnomAD-3.1.2 6.58E-06
21757 1 P/S 1 rs1166497792 0.5021 None gnomAD-4.0.0 1.53155E-05
21757 1 P/T 1 rs1166497792 0.5021 None gnomAD-3.1.2 1.32E-05
21757 1 P/T 1 rs1166497792 0.5021 None gnomAD-4.0.0 4.17695E-06
21758 2 V/A 2 None 0.1419 None gnomAD-4.0.0 1.76645E-06
21758 2 V/F 2 rs1394549346 0.1419 None gnomAD-3.1.2 6.58E-06
21758 2 V/F 2 rs1394549346 0.1419 None gnomAD-4.0.0 1.93389E-06
21759 3 D/E 3 None 0.2906 None gnomAD-4.0.0 7.11632E-07
21759 3 D/G 3 rs775903390 0.2906 None gnomAD-2.1.1 5.32E-06
21759 3 D/G 3 rs775903390 0.2906 None gnomAD-3.1.2 6.58E-06
21759 3 D/G 3 rs775903390 0.2906 None gnomAD-4.0.0 3.2175E-06
21759 3 D/V 3 rs775903390 0.2906 None gnomAD-2.1.1 5.32E-05
21760 4 P/L 4 rs1236566550 0.3169 None gnomAD-4.0.0 4.96751E-06
21760 4 P/R 4 None 0.3169 None gnomAD-4.0.0 7.09636E-07
21760 4 P/T 4 None 0.3169 None gnomAD-4.0.0 2.85383E-06
21761 5 P/S 5 rs762680180 0.1205 None gnomAD-2.1.1 1.98E-05
21761 5 P/S 5 rs762680180 0.1205 None gnomAD-4.0.0 1.13205E-05
21762 6 G/R 6 rs772939753 0.2191 None gnomAD-2.1.1 1.93E-05
21763 7 K/E 7 rs769574243 0.3014 None gnomAD-2.1.1 4.71E-06
21763 7 K/E 7 rs769574243 0.3014 None gnomAD-3.1.2 6.58E-06
21763 7 K/E 7 rs769574243 0.3014 None gnomAD-4.0.0 6.57713E-06
21763 7 K/Q 7 None 0.3014 None gnomAD-4.0.0 7.03354E-07
21763 7 K/T 7 None 0.3014 None gnomAD-4.0.0 1.20032E-06
21765 9 E/A 11 rs1430045391 0.6941 None gnomAD-2.1.1 4.49E-06
21765 9 E/A 11 rs1430045391 0.6941 None gnomAD-4.0.0 6.98304E-06
21766 10 V/F 12 None 0.3358 None gnomAD-4.0.0 1.66925E-06
21767 11 I/T 13 rs762578274 0.4358 None gnomAD-2.1.1 2.31E-05
21767 11 I/T 13 rs762578274 0.4358 None gnomAD-3.1.2 1.97E-05
21767 11 I/T 13 rs762578274 0.4358 None gnomAD-4.0.0 3.26701E-05
21768 12 D/A 14 rs1171277318 0.5453 None gnomAD-2.1.1 4.38E-06
21768 12 D/A 14 rs1171277318 0.5453 None gnomAD-4.0.0 1.64911E-06
21768 12 D/H 14 rs896934140 0.5453 None gnomAD-4.0.0 1.38996E-06
21768 12 D/N 14 None 0.5453 None gnomAD-4.0.0 6.94979E-07
21768 12 D/Y 14 None 0.5453 None gnomAD-4.0.0 6.94981E-07
21769 13 V/I 15 rs1426502571 0.1926 None gnomAD-2.1.1 4.35E-06
21769 13 V/I 15 rs1426502571 0.1926 None gnomAD-4.0.0 1.64784E-06
21770 14 T/S 16 None 0.3024 None gnomAD-4.0.0 1.63093E-06
21772 16 S/I 18 None 0.3477 None gnomAD-4.0.0 6.90467E-07
21772 16 S/N 18 rs768613983 0.3477 None gnomAD-2.1.1 8.5E-06
21772 16 S/N 18 rs768613983 0.3477 None gnomAD-4.0.0 4.83327E-06
21774 18 V/A 20 None 0.0921 None gnomAD-4.0.0 3.60097E-06
21775 19 S/F 21 None 0.1837 None gnomAD-4.0.0 4.8259E-06
21775 19 S/T 21 rs2048324718 0.1837 None gnomAD-4.0.0 1.60846E-06
21776 20 L/M 22 None 0.0976 None gnomAD-4.0.0 1.60625E-06
21777 21 I/M 23 rs779897187 0.3705 None gnomAD-2.1.1 4.17E-06
21777 21 I/M 23 rs779897187 0.3705 None gnomAD-4.0.0 1.60484E-06
21779 23 A/V 25 rs758250372 0.4475 None gnomAD-2.1.1 1.47E-05
21779 23 A/V 25 rs758250372 0.4475 None gnomAD-3.1.2 1.32E-05
21779 23 A/V 25 rs758250372 0.4475 None gnomAD-4.0.0 8.70395E-06
21780 24 R/C 26 rs745681257 0.4985 None gnomAD-2.1.1 1.47E-05
21780 24 R/C 26 rs745681257 0.4985 None gnomAD-3.1.2 6.58E-06
21780 24 R/C 26 rs745681257 0.4985 None gnomAD-4.0.0 1.30546E-05
21780 24 R/H 26 rs779044914 0.4985 None gnomAD-2.1.1 1.66E-05
21780 24 R/H 26 rs779044914 0.4985 None gnomAD-3.1.2 6.58E-06
21780 24 R/H 26 rs779044914 0.4985 None gnomAD-4.0.0 1.05671E-05
21783 27 H/R 29 rs1223104137 0.5958 None gnomAD-3.1.2 6.57E-06
21783 27 H/R 29 rs1223104137 0.5958 None gnomAD-4.0.0 3.86359E-06
21785 29 G/E 31 None 0.2112 None gnomAD-4.0.0 1.20032E-06
21786 30 G/C 32 None 0.6065 None gnomAD-4.0.0 6.86059E-07
21787 31 S/N 33 rs1290046297 0.3835 None gnomAD-3.1.2 6.58E-06
21787 31 S/N 33 rs1290046297 0.3835 None gnomAD-4.0.0 6.57661E-06
21788 32 K/I 34 None 0.9551 None gnomAD-4.0.0 2.40064E-06
21788 32 K/N 34 None 0.9551 None gnomAD-4.0.0 3.20148E-06
21788 32 K/T 34 rs1330714909 0.9551 None gnomAD-3.1.2 1.32E-05
21788 32 K/T 34 rs1330714909 0.9551 None gnomAD-4.0.0 1.31546E-05
21789 33 I/T 35 rs2048319290 0.1748 None gnomAD-4.0.0 1.12037E-05
21789 33 I/V 35 None 0.1748 None gnomAD-4.0.0 1.60089E-06
21790 34 I/M 36 rs764130758 0.2642 None gnomAD-2.1.1 4.13E-06
21790 34 I/M 36 rs764130758 0.2642 None gnomAD-4.0.0 1.60047E-06
21790 34 I/T 36 rs727503580 0.2642 None gnomAD-2.1.1 1.24E-05
21790 34 I/T 36 rs727503580 0.2642 None gnomAD-3.1.2 1.32E-05
21790 34 I/T 36 rs727503580 0.2642 None gnomAD-4.0.0 1.1584E-05
21791 35 G/C 37 None 0.0740 None gnomAD-4.0.0 4.80176E-06
21791 35 G/S 37 rs370878527 0.0740 None gnomAD-2.1.1 2.19E-05
21791 35 G/S 37 rs370878527 0.0740 None gnomAD-3.1.2 3.95E-05
21791 35 G/S 37 rs370878527 0.0740 None gnomAD-4.0.0 6.21193E-05
21792 36 Y/C 38 None 0.0751 None gnomAD-4.0.0 7.20193E-06
21794 38 V/A 40 rs2154179261 0.0969 None gnomAD-4.0.0 2.05753E-06
21794 38 V/I 40 None 0.0969 None gnomAD-2.1.1 2.19E-05
21794 38 V/I 40 None 0.0969 None gnomAD-3.1.2 2.63E-05
21794 38 V/I 40 None 0.0969 None gnomAD-4.0.0 2.67106E-05
21794 38 V/L 40 rs373848128 0.0969 None gnomAD-2.1.1 1.46E-05
21794 38 V/L 40 rs373848128 0.0969 None gnomAD-3.1.2 6.58E-06
21794 38 V/L 40 rs373848128 0.0969 None gnomAD-4.0.0 6.85958E-07
21796 40 A/V 42 rs752002587 0.1213 None gnomAD-2.1.1 4.12E-06
21796 40 A/V 42 rs752002587 0.1213 None gnomAD-4.0.0 1.60002E-06
21797 41 C/F 43 rs886042894 0.0820 None gnomAD-4.0.0 4.80084E-06
21797 41 C/G 43 rs375830234 0.0820 None gnomAD-2.1.1 6.17E-05
21797 41 C/G 43 rs375830234 0.0820 None gnomAD-3.1.2 5.92E-05
21797 41 C/G 43 rs375830234 0.0820 None gnomAD-4.0.0 5.15397E-05
21797 41 C/Y 43 rs886042894 0.0820 None gnomAD-4.0.0 2.0575E-06
21798 42 K/T 44 rs776173264 0.3192 None gnomAD-2.1.1 4.11E-06
21799 43 L/P 50 rs1260259069 0.3242 None gnomAD-2.1.1 4.1E-06
21799 43 L/P 50 rs1260259069 0.3242 None gnomAD-4.0.0 1.59838E-06
21799 43 L/R 50 None 0.3242 None gnomAD-4.0.0 3.19676E-06
21800 44 P/S 54 rs760650311 0.9836 None gnomAD-4.0.0 2.74218E-06
21800 44 P/T 54 rs760650311 0.9836 None gnomAD-2.1.1 8.21E-06
21800 44 P/T 54 rs760650311 0.9836 None gnomAD-4.0.0 2.74218E-06
21801 45 G/D 60 None 0.4021 None gnomAD-4.0.0 1.59823E-06
21802 46 D/E 63 rs1228795197 0.9709 None gnomAD-2.1.1 4.1E-06
21802 46 D/E 63 rs1228795197 0.9709 None gnomAD-4.0.0 1.59782E-06
21803 47 K/R 64 None 0.7826 None gnomAD-4.0.0 1.20032E-06
21803 47 K/T 64 rs2048309985 0.7826 None gnomAD-3.1.2 6.58E-06
21803 47 K/T 64 rs2048309985 0.7826 None gnomAD-4.0.0 6.57549E-06
21804 48 W/C 65 None 0.2672 None gnomAD-4.0.0 3.19517E-06
21804 48 W/R 65 rs745626132 0.2672 None gnomAD-2.1.1 2.86E-05
21804 48 W/R 65 rs745626132 0.2672 None gnomAD-3.1.2 6.58E-06
21804 48 W/R 65 rs745626132 0.2672 None gnomAD-4.0.0 6.8532E-07
21805 49 V/E 66 None 0.5715 None gnomAD-4.0.0 2.40064E-06
21805 49 V/I 66 None 0.5715 None gnomAD-4.0.0 1.597E-06
21806 50 R/P 67 rs771120053 0.3444 None gnomAD-4.0.0 6.85245E-07
21806 50 R/Q 67 rs771120053 0.3444 None gnomAD-2.1.1 1.22E-05
21806 50 R/Q 67 rs771120053 0.3444 None gnomAD-3.1.2 6.58E-06
21806 50 R/Q 67 rs771120053 0.3444 None gnomAD-4.0.0 5.58548E-06
21806 50 R/W 67 rs778703530 0.3444 None gnomAD-2.1.1 8.33E-05
21806 50 R/W 67 rs778703530 0.3444 None gnomAD-3.1.2 8.55E-05
21806 50 R/W 67 rs778703530 0.3444 None gnomAD-4.0.0 8.81411E-05
21807 51 C/R 68 rs1199010062 0.2593 None gnomAD-2.1.1 3.19E-05
21807 51 C/R 68 rs1199010062 0.2593 None gnomAD-3.1.2 6.58E-06
21807 51 C/R 68 rs1199010062 0.2593 None gnomAD-4.0.0 3.72331E-06
21807 51 C/Y 68 rs749514907 0.2593 None gnomAD-2.1.1 1.22E-05
21807 51 C/Y 68 rs749514907 0.2593 None gnomAD-4.0.0 4.79661E-06
21808 52 N/D 69 rs1160479149 0.1098 None gnomAD-2.1.1 4.07E-06
21808 52 N/D 69 rs1160479149 0.1098 None gnomAD-4.0.0 2.05526E-06
21808 52 N/H 69 rs1160479149 0.1098 None gnomAD-2.1.1 4.07E-06
21808 52 N/H 69 rs1160479149 0.1098 None gnomAD-4.0.0 6.85088E-07
21808 52 N/S 69 rs777905598 0.1098 None gnomAD-2.1.1 4.07E-06
21808 52 N/S 69 rs777905598 0.1098 None gnomAD-4.0.0 1.59598E-06
21809 53 T/I 70 rs756088419 0.8684 None gnomAD-2.1.1 8.14E-06
21809 53 T/I 70 rs756088419 0.8684 None gnomAD-4.0.0 1.37023E-06
21809 53 T/N 70 None 0.8684 None gnomAD-3.1.2 6.58E-06
21809 53 T/N 70 None 0.8684 None gnomAD-4.0.0 1.86144E-06
21809 53 T/S 70 rs756088419 0.8684 None gnomAD-2.1.1 4.07E-06
21809 53 T/S 70 rs756088419 0.8684 None gnomAD-4.0.0 1.37023E-06
21810 54 A/P 72 None 0.1517 None gnomAD-4.0.0 6.85079E-07
21810 54 A/T 72 rs752825084 0.1517 None gnomAD-2.1.1 4.07E-06
21810 54 A/T 72 rs752825084 0.1517 None gnomAD-4.0.0 6.85079E-07
21810 54 A/V 72 rs2048304433 0.1517 None gnomAD-3.1.2 6.58E-06
21810 54 A/V 72 rs2048304433 0.1517 None gnomAD-4.0.0 1.24088E-06
21811 55 P/S 73 rs1424664692 0.0989 None gnomAD-2.1.1 4.06E-06
21811 55 P/S 73 rs1424664692 0.0989 None gnomAD-4.0.0 1.37006E-06
21812 56 H/N 74 rs267599042 0.5463 None gnomAD-2.1.1 4.06E-06
21812 56 H/N 74 rs267599042 0.5463 None gnomAD-4.0.0 3.19077E-06
21814 58 I/T 77 rs781750612 0.0640 None gnomAD-2.1.1 4.05E-06
21816 60 Q/L 88 None 0.6592 None gnomAD-4.0.0 6.84874E-07
21817 61 E/K 89 rs751947173 0.1599 None gnomAD-2.1.1 1.08E-05
21817 61 E/K 89 rs751947173 0.1599 None gnomAD-3.1.2 6.58E-06
21817 61 E/K 89 rs751947173 0.1599 None gnomAD-4.0.0 2.48111E-06
21820 64 T/I 92 rs56130023 0.3435 None gnomAD-2.1.1 9.87908E-04
21820 64 T/I 92 rs56130023 0.3435 None gnomAD-3.1.2 7.82462E-04
21820 64 T/I 92 rs56130023 0.3435 None 1000 genomes 1.19808E-03
21820 64 T/I 92 rs56130023 0.3435 None gnomAD-4.0.0 5.99741E-04
21821 65 A/P 93 None 0.0947 None gnomAD-4.0.0 1.59462E-06
21821 65 A/T 93 rs2048299727 0.0947 None gnomAD-4.0.0 1.59462E-06
21821 65 A/V 93 rs1398162885 0.0947 None gnomAD-3.1.2 6.58E-06
21821 65 A/V 93 rs1398162885 0.0947 None gnomAD-4.0.0 6.09034E-06
21823 67 G/D 96 None 0.5339 None gnomAD-4.0.0 1.59466E-06
21826 70 E/K 99 rs763824247 0.4659 None gnomAD-2.1.1 4.04E-06
21826 70 E/K 99 rs763824247 0.4659 None gnomAD-4.0.0 3.18899E-06
21827 71 K/Q 100 None 0.7103 None gnomAD-4.0.0 1.59444E-06
21828 72 A/G 102 None 0.1472 None gnomAD-4.0.0 6.84825E-06
21828 72 A/T 102 rs1294321352 0.1472 None gnomAD-4.0.0 1.59466E-06
21828 72 A/V 102 None 0.1472 None gnomAD-4.0.0 6.84825E-07
21829 73 Q/E 103 None 0.3839 None gnomAD-4.0.0 1.36967E-06
21829 73 Q/R 103 rs886038921 0.3839 None gnomAD-2.1.1 8.09E-06
21829 73 Q/R 103 rs886038921 0.3839 None gnomAD-4.0.0 3.18916E-06
21832 76 F/L 106 rs1366676743 0.1202 None gnomAD-2.1.1 1.21E-05
21832 76 F/L 106 rs1366676743 0.1202 None gnomAD-4.0.0 3.18942E-06
21832 76 F/S 106 None 0.1202 None gnomAD-4.0.0 1.20032E-06
21833 77 R/T 107 None 0.1490 None gnomAD-4.0.0 1.59485E-06
21834 78 A/G 108 None 0.0835 None gnomAD-4.0.0 6.84853E-07
21834 78 A/T 108 rs374874879 0.0835 None gnomAD-2.1.1 8.09E-06
21834 78 A/T 108 rs374874879 0.0835 None gnomAD-3.1.2 6.58E-06
21834 78 A/T 108 rs374874879 0.0835 None gnomAD-4.0.0 1.4266E-05
21834 78 A/V 108 rs878949081 0.0835 None gnomAD-2.1.1 8.09E-06
21834 78 A/V 108 rs878949081 0.0835 None gnomAD-4.0.0 4.79397E-06
21836 80 A/V 110 None 0.0925 None gnomAD-4.0.0 6.84941E-07
21837 81 R/W 111 rs2048289282 0.2041 None gnomAD-3.1.2 6.57E-06
21837 81 R/W 111 rs2048289282 0.2041 None gnomAD-4.0.0 6.57428E-06
21838 82 T/N 112 rs1458673199 0.0988 None gnomAD-2.1.1 4.04E-06
21838 82 T/N 112 rs1458673199 0.0988 None gnomAD-4.0.0 1.595E-06
21839 83 A/E 113 None 0.5861 None gnomAD-4.0.0 1.36988E-06
21839 83 A/T 113 rs56378177 0.5861 None gnomAD-2.1.1 6.82E-05
21839 83 A/T 113 rs56378177 0.5861 None gnomAD-3.1.2 8.55E-05
21839 83 A/T 113 rs56378177 0.5861 None gnomAD-4.0.0 5.64476E-05
21839 83 A/V 113 rs55948748 0.5861 None gnomAD-2.1.1 4.4563E-03
21839 83 A/V 113 rs55948748 0.5861 None gnomAD-3.1.2 1.22502E-02
21839 83 A/V 113 rs55948748 0.5861 None 1000 genomes 1.41773E-02
21839 83 A/V 113 rs55948748 0.5861 None gnomAD-4.0.0 2.49612E-03
21840 84 V/E 114 None 0.6563 None gnomAD-4.0.0 1.59513E-06
21840 84 V/I 114 rs770780646 0.6563 None gnomAD-2.1.1 1.21E-05
21840 84 V/I 114 rs770780646 0.6563 None gnomAD-3.1.2 6.58E-06
21840 84 V/I 114 rs770780646 0.6563 None gnomAD-4.0.0 3.72184E-06
21840 84 V/L 114 rs770780646 0.6563 None gnomAD-3.1.2 6.58E-06
21840 84 V/L 114 rs770780646 0.6563 None gnomAD-4.0.0 6.57601E-06
21842 86 I/T 117 None 0.4475 None gnomAD-4.0.0 1.36998E-06
21843 87 S/G 118 None 0.1077 None gnomAD-4.0.0 6.00162E-06
21843 87 S/N 118 rs2154179160 0.1077 None gnomAD-4.0.0 1.59594E-06
21843 87 S/R 118 None 0.1077 None gnomAD-4.0.0 6.8508E-07
21845 89 P/L 120 rs201662134 0.3873 None gnomAD-2.1.1 4.78022E-04
21845 89 P/L 120 rs201662134 0.3873 None gnomAD-3.1.2 2.63026E-04
21845 89 P/L 120 rs201662134 0.3873 None gnomAD-4.0.0 2.5878E-04
21846 90 S/P 121 None 0.1048 None gnomAD-4.0.0 1.20032E-06
21848 92 P/L 123 rs1559520585 0.3807 None gnomAD-4.0.0 1.37214E-06
21848 92 P/T 123 None 0.3807 None gnomAD-4.0.0 1.59783E-06
21849 93 S/F 124 rs1060500465 0.1092 None gnomAD-4.0.0 3.20569E-06
21850 94 D/N 125 rs2048279657 0.6805 None gnomAD-4.0.0 1.60414E-06
21850 94 D/V 125 rs372750796 0.6805 None gnomAD-2.1.1 8.14E-06
21850 94 D/V 125 rs372750796 0.6805 None gnomAD-3.1.2 6.58E-06
21850 94 D/V 125 rs372750796 0.6805 None gnomAD-4.0.0 2.48629E-06
21851 95 P/T 126 None 0.4436 None gnomAD-4.0.0 6.86624E-07
21854 98 I/L 130 None 0.0657 None gnomAD-4.0.0 6.89351E-07
21854 98 I/V 130 None 0.0657 None gnomAD-4.0.0 6.89351E-07
21856 100 A/T 132 rs752176305 0.4783 None gnomAD-2.1.1 6.66E-05
21856 100 A/T 132 rs752176305 0.4783 None gnomAD-3.1.2 3.29E-05
21856 100 A/T 132 rs752176305 0.4783 None gnomAD-4.0.0 2.12921E-05
21856 100 A/V 132 rs1303979451 0.4783 None gnomAD-2.1.1 4.15E-06
21856 100 A/V 132 rs1303979451 0.4783 None gnomAD-4.0.0 2.76665E-06