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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
P P W P P G K P T V K D V G K T S V R L N W T K P E H D G G A K I E S Y V I E M L K T G T D E W V R V A E G V P T T Q H L L P G L M E G Q E Y S F R V R A V N K A G E S E P S E P S D P V L C R E K L Y P P S P P R W L E V I N I T K N T A D L K W T V P E K D G G S P I T N Y I V E K R D V R R K G W Q T V D T T V K D T K C T V T P L T E G S L Y V F R V A A E N A I G Q S D Y T E I E D S V L A K D T
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - P P S P P R W L E V I N I T K N T A D L K W T V P E K D G G S P I T N Y I V E K R D V R R K G W Q T V D T T V K D T K C T V T P L T E G S L Y V F R V A A E N A I G Q S D Y T E I E D S V L A K D -

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
16651 1 P/H 1 None 0.3156 None gnomAD-4.0.0 6.89576E-07
16651 1 P/S 1 rs537759268 0.3156 None gnomAD-3.1.2 6.65E-06
16651 1 P/S 1 rs537759268 0.3156 None gnomAD-4.0.0 2.50083E-06
16651 1 P/T 1 rs537759268 0.3156 None gnomAD-2.1.1 4.36E-06
16651 1 P/T 1 rs537759268 0.3156 None 1000 genomes 1.99681E-04
16653 3 S/L 3 rs746669146 0.1914 None gnomAD-2.1.1 8.44E-06
16653 3 S/L 3 rs746669146 0.1914 None gnomAD-4.0.0 4.82916E-06
16654 4 P/A 4 rs1362265469 0.3079 None gnomAD-2.1.1 4.21E-06
16654 4 P/A 4 rs1362265469 0.3079 None gnomAD-4.0.0 1.60804E-06
16654 4 P/S 4 rs1362265469 0.3079 None gnomAD-2.1.1 4.21E-06
16654 4 P/S 4 rs1362265469 0.3079 None gnomAD-4.0.0 1.60804E-06
16654 4 P/T 4 None 0.3079 None gnomAD-4.0.0 6.43217E-06
16655 5 P/T 5 rs794729449 0.1342 None gnomAD-4.0.0 6.85852E-07
16656 6 R/C 6 rs1030093239 0.3821 None gnomAD-2.1.1 7.35E-06
16656 6 R/C 6 rs1030093239 0.3821 None gnomAD-3.1.2 1.32E-05
16656 6 R/C 6 rs1030093239 0.3821 None gnomAD-4.0.0 1.11796E-05
16656 6 R/H 6 rs373799076 0.3821 None gnomAD-2.1.1 3.32E-05
16656 6 R/H 6 rs373799076 0.3821 None gnomAD-3.1.2 6.61E-06
16656 6 R/H 6 rs373799076 0.3821 None gnomAD-4.0.0 3.04448E-05
16656 6 R/L 6 rs373799076 0.3821 None gnomAD-4.0.0 6.17284E-06
16656 6 R/S 6 rs1030093239 0.3821 None gnomAD-2.1.1 8.3E-06
16656 6 R/S 6 rs1030093239 0.3821 None gnomAD-4.0.0 5.48543E-06
16659 9 E/K 11 rs778767799 0.4948 None gnomAD-2.1.1 4.13E-06
16659 9 E/K 11 rs778767799 0.4948 None gnomAD-3.1.2 6.59E-06
16659 9 E/K 11 rs778767799 0.4948 None gnomAD-4.0.0 6.4271E-06
16660 10 V/I 12 rs757016105 0.2947 None gnomAD-2.1.1 3.71E-05
16660 10 V/I 12 rs757016105 0.2947 None gnomAD-3.1.2 6.59E-06
16660 10 V/I 12 rs757016105 0.2947 None gnomAD-4.0.0 2.44193E-05
16661 11 I/T 13 None 0.5614 None gnomAD-4.0.0 1.3702E-06
16661 11 I/V 13 rs1353241870 0.5614 None gnomAD-2.1.1 4.12E-06
16661 11 I/V 13 rs1353241870 0.5614 None gnomAD-4.0.0 1.59611E-06
16662 12 N/D 14 rs2056522991 0.5673 None gnomAD-3.1.2 6.59E-06
16662 12 N/D 14 rs2056522991 0.5673 None gnomAD-4.0.0 6.58623E-06
16662 12 N/S 14 rs36043230 0.5673 None gnomAD-2.1.1 4.12E-06
16662 12 N/S 14 rs36043230 0.5673 None gnomAD-3.1.2 1.32E-05
16662 12 N/S 14 rs36043230 0.5673 None gnomAD-4.0.0 1.86158E-06
16662 12 N/T 14 rs36043230 0.5673 None gnomAD-2.1.1 1.57647E-02
16662 12 N/T 14 rs36043230 0.5673 None gnomAD-3.1.2 1.43738E-02
16662 12 N/T 14 rs36043230 0.5673 None 1000 genomes 6.38978E-03
16662 12 N/T 14 rs36043230 0.5673 None gnomAD-4.0.0 1.95167E-02
16663 13 I/T 15 rs774556838 0.2241 None gnomAD-2.1.1 1.23E-05
16663 13 I/T 15 rs774556838 0.2241 None gnomAD-3.1.2 1.32E-05
16663 13 I/T 15 rs774556838 0.2241 None gnomAD-4.0.0 1.61339E-05
16663 13 I/V 15 rs1410838349 0.2241 None gnomAD-4.0.0 3.42538E-06
16664 14 T/I 16 rs1171944721 0.2287 None gnomAD-2.1.1 8.23E-06
16664 14 T/I 16 rs1171944721 0.2287 None gnomAD-4.0.0 7.97939E-06
16665 15 K/R 17 None 0.3322 None gnomAD-4.0.0 1.59558E-06
16668 18 A/E 20 None 0.0896 None gnomAD-4.0.0 1.59546E-06
16668 18 A/P 20 None 0.0896 None gnomAD-4.0.0 6.84984E-07
16668 18 A/S 20 None 0.0896 None gnomAD-4.0.0 6.84984E-07
16668 18 A/V 20 None 0.0896 None gnomAD-4.0.0 1.59546E-06
16670 20 L/I 22 None 0.1059 None gnomAD-4.0.0 1.59526E-06
16673 23 T/R 25 rs373889292 0.2579 None gnomAD-4.0.0 3.42471E-06
16674 24 V/I 26 rs2056518372 0.5932 None gnomAD-3.1.2 6.58E-06
16674 24 V/I 26 rs2056518372 0.5932 None gnomAD-4.0.0 5.58331E-06
16676 26 E/G 28 None 0.6072 None gnomAD-4.0.0 1.59497E-06
16676 26 E/K 28 rs759582108 0.6072 None gnomAD-2.1.1 4.09E-06
16676 26 E/K 28 rs759582108 0.6072 None gnomAD-4.0.0 4.78506E-06
16678 28 D/E 30 rs774889204 0.3622 None gnomAD-2.1.1 4.09E-06
16678 28 D/G 30 None 0.3622 None gnomAD-4.0.0 1.5948E-06
16680 30 G/R 32 rs1206390929 0.4223 None gnomAD-2.1.1 4.09E-06
16680 30 G/R 32 rs1206390929 0.4223 None gnomAD-4.0.0 3.18982E-06
16681 31 S/P 33 None 0.1838 None gnomAD-4.0.0 1.36975E-06
16681 31 S/T 33 rs771522078 0.1838 None gnomAD-2.1.1 4.09E-06
16681 31 S/T 33 rs771522078 0.1838 None gnomAD-4.0.0 6.84876E-07
16682 32 P/L 34 rs1349579168 0.6822 None gnomAD-2.1.1 4.09E-06
16682 32 P/L 34 rs1349579168 0.6822 None gnomAD-3.1.2 6.58E-06
16682 32 P/L 34 rs1349579168 0.6822 None gnomAD-4.0.0 1.24064E-06
16682 32 P/S 34 None 0.6822 None gnomAD-4.0.0 4.78432E-06
16682 32 P/T 34 rs1231714517 0.6822 None gnomAD-2.1.1 4.09E-06
16682 32 P/T 34 rs1231714517 0.6822 None gnomAD-4.0.0 1.59477E-06
16684 34 T/I 36 rs1303563982 0.3250 None gnomAD-2.1.1 4.08E-06
16684 34 T/I 36 rs1303563982 0.3250 None gnomAD-4.0.0 1.36963E-06
16684 34 T/N 36 None 0.3250 None gnomAD-4.0.0 1.36963E-06
16684 34 T/S 36 None 0.3250 None gnomAD-4.0.0 6.84816E-07
16686 36 Y/C 38 rs2056512518 0.1197 RCM
Literature None
16687 37 I/M 39 rs1559789920 0.1535 None gnomAD-2.1.1 4.07E-06
16687 37 I/M 39 rs1559789920 0.1535 None gnomAD-4.0.0 1.59425E-06
16687 37 I/V 39 rs727504194 0.1535 None gnomAD-2.1.1 7.33E-05
16687 37 I/V 39 rs727504194 0.1535 None gnomAD-3.1.2 1.31636E-04
16687 37 I/V 39 rs727504194 0.1535 None gnomAD-4.0.0 2.72912E-05
16688 38 V/E 40 None 0.1047 None gnomAD-4.0.0 2.40064E-06
16693 43 V/A 50 rs927020149 0.4122 None gnomAD-2.1.1 4.06E-06
16693 43 V/A 50 rs927020149 0.4122 None gnomAD-3.1.2 6.58E-06
16693 43 V/A 50 rs927020149 0.4122 None gnomAD-4.0.0 5.58201E-06
16693 43 V/I 50 rs377141765 0.4122 None gnomAD-2.1.1 2.16E-05
16693 43 V/I 50 rs377141765 0.4122 None gnomAD-3.1.2 3.29E-05
16693 43 V/I 50 rs377141765 0.4122 None 1000 genomes 1.99681E-04
16693 43 V/I 50 rs377141765 0.4122 None gnomAD-4.0.0 3.53491E-05
16694 44 R/K 54 rs779633258 0.6792 None gnomAD-2.1.1 4.06E-06
16694 44 R/K 54 rs779633258 0.6792 None gnomAD-3.1.2 6.58E-06
16694 44 R/K 54 rs779633258 0.6792 None gnomAD-4.0.0 6.58224E-06
16695 45 R/Q 60 rs794729451 0.7380 None gnomAD-2.1.1 4.06E-06
16695 45 R/Q 60 rs794729451 0.7380 None gnomAD-3.1.2 2.63E-05
16695 45 R/Q 60 rs794729451 0.7380 None gnomAD-4.0.0 1.05435E-05
16696 46 K/N 63 rs745412383 1.0931 None gnomAD-2.1.1 4.06E-06
16696 46 K/N 63 rs745412383 1.0931 None gnomAD-4.0.0 1.59406E-06
16697 47 G/A 64 None 0.4312 None gnomAD-4.0.0 1.59394E-06
16697 47 G/C 64 rs1553698627 0.4312 None gnomAD-2.1.1 4.05E-06
16697 47 G/C 64 rs1553698627 0.4312 None gnomAD-4.0.0 2.05408E-06
16697 47 G/S 64 rs1553698627 0.4312 None gnomAD-2.1.1 1.22E-05
16697 47 G/S 64 rs1553698627 0.4312 None gnomAD-4.0.0 6.84694E-07
16698 48 W/R 65 None 0.2851 None gnomAD-4.0.0 1.59388E-06
16699 49 Q/R 66 None 0.6461 None gnomAD-4.0.0 1.59381E-06
16700 50 T/A 67 None 0.4508 None gnomAD-4.0.0 2.40064E-06
16701 51 V/M 68 None 0.2657 None gnomAD-4.0.0 1.5939E-06
16702 52 D/N 69 rs1417347726 0.3192 None gnomAD-2.1.1 7.19E-06
16702 52 D/N 69 rs1417347726 0.3192 None gnomAD-3.1.2 6.58E-06
16702 52 D/N 69 rs1417347726 0.3192 None gnomAD-4.0.0 2.48081E-06
16703 53 T/A 70 rs778518712 0.4698 None gnomAD-2.1.1 4.05E-06
16703 53 T/A 70 rs778518712 0.4698 None gnomAD-4.0.0 1.59387E-06
16703 53 T/I 70 rs757138357 0.4698 None gnomAD-2.1.1 4.05E-06
16703 53 T/I 70 rs757138357 0.4698 None gnomAD-4.0.0 1.59408E-06
16703 53 T/N 70 rs757138357 0.4698 None gnomAD-4.0.0 3.18816E-06
16706 56 K/E 83 None 0.7325 None gnomAD-4.0.0 2.40064E-06
16706 56 K/R 83 rs879111780 0.7325 None gnomAD-2.1.1 7.18E-06
16706 56 K/R 83 rs879111780 0.7325 None gnomAD-3.1.2 1.32E-05
16706 56 K/R 83 rs879111780 0.7325 None gnomAD-4.0.0 6.41578E-06
16707 57 D/N 88 rs1158553720 0.6604 None gnomAD-2.1.1 3.19E-05
16707 57 D/N 88 rs1158553720 0.6604 None gnomAD-3.1.2 6.58E-06
16707 57 D/N 88 rs1158553720 0.6604 None gnomAD-4.0.0 4.34139E-06
16708 58 T/A 89 rs2056500591 0.2285 None gnomAD-3.1.2 6.58E-06
16708 58 T/A 89 rs2056500591 0.2285 None gnomAD-4.0.0 2.56635E-06
16708 58 T/N 89 rs777539591 0.2285 None gnomAD-2.1.1 4.04E-06
16708 58 T/N 89 rs777539591 0.2285 None gnomAD-4.0.0 1.36939E-06
16708 58 T/P 89 None 0.2285 None gnomAD-4.0.0 1.59389E-06
16708 58 T/S 89 None 0.2285 None gnomAD-4.0.0 1.36939E-06
16709 59 K/N 90 rs1244376906 0.5838 None gnomAD-2.1.1 3.19E-05
16709 59 K/N 90 rs1244376906 0.5838 None gnomAD-3.1.2 6.58E-06
16709 59 K/N 90 rs1244376906 0.5838 None gnomAD-4.0.0 6.58328E-06
16709 59 K/Q 90 rs755961446 0.5838 None gnomAD-2.1.1 1.21E-05
16709 59 K/Q 90 rs755961446 0.5838 None gnomAD-4.0.0 7.96952E-06
16709 59 K/R 90 rs2056499137 0.5838 None gnomAD-3.1.2 6.58E-06
16709 59 K/R 90 rs2056499137 0.5838 None gnomAD-4.0.0 2.56639E-06
16711 61 T/R 92 None 0.4360 None gnomAD-4.0.0 1.59393E-06
16712 62 V/D 93 None 0.1108 None gnomAD-4.0.0 6.84701E-07
16712 62 V/G 93 rs1314552701 0.1108 None gnomAD-2.1.1 4.04E-06
16712 62 V/G 93 rs1314552701 0.1108 None gnomAD-4.0.0 4.1082E-06
16712 62 V/I 93 None 0.1108 None gnomAD-4.0.0 6.84696E-07
16712 62 V/L 93 rs2056497488 0.1108 None gnomAD-4.0.0 6.84696E-07
16713 63 T/I 94 rs2056496324 0.4957 None gnomAD-3.1.2 6.58E-06
16713 63 T/I 94 rs2056496324 0.4957 None gnomAD-4.0.0 6.58233E-06
16714 64 P/L 96 rs1309789816 0.6249 None gnomAD-2.1.1 4.04E-06
16714 64 P/L 96 rs1309789816 0.6249 None gnomAD-4.0.0 2.05411E-06
16715 65 L/V 97 rs1181230555 0.1106 None gnomAD-2.1.1 6.38E-05
16715 65 L/V 97 rs1181230555 0.1106 None gnomAD-3.1.2 1.97E-05
16715 65 L/V 97 rs1181230555 0.1106 None gnomAD-4.0.0 7.69888E-06
16717 67 E/D 99 rs369623681 0.5023 None gnomAD-2.1.1 1.08E-05
16717 67 E/D 99 rs369623681 0.5023 None gnomAD-3.1.2 1.97E-05
16717 67 E/D 99 rs369623681 0.5023 None gnomAD-4.0.0 2.17067E-05
16718 68 G/V 100 None 0.3797 None gnomAD-4.0.0 1.59394E-06
16719 69 S/Y 102 rs1416967090 0.1347 None gnomAD-2.1.1 4.04E-06
16719 69 S/Y 102 rs1416967090 0.1347 None gnomAD-4.0.0 1.594E-06
16721 71 Y/C 104 None 0.1087 None gnomAD-4.0.0 1.36945E-06
16724 74 R/Q 107 rs768793035 0.0968 None gnomAD-2.1.1 7.17E-06
16724 74 R/Q 107 rs768793035 0.0968 None gnomAD-3.1.2 1.32E-05
16724 74 R/Q 107 rs768793035 0.0968 None gnomAD-4.0.0 2.3568E-05
16726 76 A/T 109 None 0.0571 None gnomAD-4.0.0 1.20032E-06
16727 77 A/T 110 rs766576103 0.0791 None gnomAD-2.1.1 1.21E-05
16727 77 A/T 110 rs766576103 0.0791 None gnomAD-4.0.0 4.10832E-06
16727 77 A/V 110 None 0.0791 None gnomAD-4.0.0 1.20032E-06
16730 80 A/T 113 None 0.5324 None gnomAD-4.0.0 3.42348E-06
16730 80 A/V 113 rs763483590 0.5324 None gnomAD-2.1.1 4.04E-06
16730 80 A/V 113 rs763483590 0.5324 None gnomAD-4.0.0 1.59398E-06
16731 81 I/T 114 None 0.3585 None gnomAD-4.0.0 1.59386E-06
16731 81 I/V 114 None 0.3585 None gnomAD-4.0.0 1.20032E-06
16732 82 G/R 115 rs1419646565 0.1662 None gnomAD-2.1.1 4.04E-06
16732 82 G/R 115 rs1419646565 0.1662 None gnomAD-4.0.0 1.59388E-06
16734 84 S/G 118 rs1227059346 0.0963 None gnomAD-3.1.2 6.58E-06
16734 84 S/G 118 rs1227059346 0.0963 None gnomAD-4.0.0 6.5825E-06
16735 85 D/E 119 None 0.8582 None gnomAD-4.0.0 6.84702E-07
16735 85 D/N 119 rs773927256 0.8582 None gnomAD-2.1.1 8.07E-06
16735 85 D/N 119 rs773927256 0.8582 None gnomAD-3.1.2 6.58E-06
16735 85 D/N 119 rs773927256 0.8582 None gnomAD-4.0.0 1.41157E-05
16736 86 Y/N 120 None 0.2638 None gnomAD-4.0.0 1.20032E-06
16737 87 T/A 121 None 0.2203 None gnomAD-4.0.0 1.59394E-06
16737 87 T/I 121 None 0.2203 None gnomAD-4.0.0 3.60097E-06
16738 88 E/G 122 None 0.3355 None gnomAD-4.0.0 3.18788E-06
16738 88 E/K 122 rs148018042 0.3355 None gnomAD-2.1.1 1.46918E-04
16738 88 E/K 122 rs148018042 0.3355 None gnomAD-3.1.2 1.84232E-04
16738 88 E/K 122 rs148018042 0.3355 None 1000 genomes 3.99361E-04
16738 88 E/K 122 rs148018042 0.3355 None gnomAD-4.0.0 2.19528E-04
16739 89 I/V 123 rs1553698265 0.1664 None gnomAD-4.0.0 1.59395E-06
16740 90 E/G 124 rs1314963445 1.0535 None gnomAD-3.1.2 6.58E-06
16740 90 E/G 124 rs1314963445 1.0535 None gnomAD-4.0.0 6.57903E-06
16740 90 E/K 124 rs771586396 1.0535 None gnomAD-2.1.1 4.04E-06
16740 90 E/K 124 rs771586396 1.0535 None gnomAD-4.0.0 2.05414E-06
16741 91 D/E 125 rs372658275 0.9025 None gnomAD-3.1.2 1.97E-05
16741 91 D/E 125 rs372658275 0.9025 None gnomAD-4.0.0 3.10078E-06
16743 93 V/L 127 None 0.2724 None gnomAD-4.0.0 1.59407E-06
16743 93 V/M 127 None 0.2724 None gnomAD-4.0.0 1.59407E-06
16745 95 A/T 130 rs2056479723 0.0667 None gnomAD-3.1.2 6.58E-06
16745 95 A/T 130 rs2056479723 0.0667 None gnomAD-4.0.0 1.86092E-06
16746 96 K/Q 131 None 0.4796 None gnomAD-4.0.0 4.80129E-06
16746 96 K/T 131 rs1367329297 0.4796 None gnomAD-3.1.2 6.58E-06
16746 96 K/T 131 rs1367329297 0.4796 None gnomAD-4.0.0 2.0302E-06
16747 97 D/G 132 rs745559631 0.4465 None gnomAD-2.1.1 4.04E-06