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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 G P P A K I R I A D S T K S S I T L G W S K P V Y D G G S A V T G Y V V E I R Q G E E E E W T T V S T K G E V R T T E Y V V S N L K P G V N Y Y F R V S A V N C A G Q G E P I E M N E P V Q A K D I
P P G P P A K I R I A D S T K S S I T L G W S K P V Y D G G S A V T G Y V V E I R Q G E E E E W T T V S T K G E V R T T E Y V V S N L K P G V N Y Y F R V S A V N C A G Q G E P I E M N E P V Q 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
29734 1 P/L 1 rs759858087 0.5212 None gnomAD-2.1.1 4.43E-06
29734 1 P/L 1 rs759858087 0.5212 None gnomAD-3.1.2 1.31E-05
29734 1 P/L 1 rs759858087 0.5212 None gnomAD-4.0.0 1.07093E-05
29736 3 G/A 3 rs1454670479 0.2467 None gnomAD-3.1.2 6.57E-06
29736 3 G/A 3 rs1454670479 0.2467 None gnomAD-4.0.0 2.51311E-06
29736 3 G/V 3 rs1454670479 0.2467 None gnomAD-2.1.1 4.35E-06
29737 4 P/T 4 None 0.4207 None gnomAD-4.0.0 1.64725E-06
29738 5 P/S 5 None 0.1274 None gnomAD-4.0.0 4.15042E-06
29739 6 A/P 6 rs1700259287 0.2618 None gnomAD-4.0.0 1.63036E-06
29739 6 A/S 6 None 0.2618 None gnomAD-4.0.0 1.63036E-06
29740 7 K/E 7 None 0.7826 None gnomAD-4.0.0 1.20032E-06
29741 8 I/K 9 rs994680651 0.2344 None gnomAD-3.1.2 6.57E-06
29741 8 I/K 9 rs994680651 0.2344 None gnomAD-4.0.0 6.57108E-06
29741 8 I/V 9 rs751436345 0.2344 None gnomAD-2.1.1 8.41E-06
29741 8 I/V 9 rs751436345 0.2344 None gnomAD-3.1.2 6.57E-06
29741 8 I/V 9 rs751436345 0.2344 None gnomAD-4.0.0 3.74604E-06
29742 9 R/G 11 None 0.4174 None gnomAD-4.0.0 1.20032E-06
29743 10 I/T 12 rs1007947079 0.3042 None gnomAD-3.1.2 6.57E-06
29743 10 I/T 12 rs1007947079 0.3042 None gnomAD-4.0.0 5.609E-06
29743 10 I/V 12 rs1456621451 0.3042 None gnomAD-2.1.1 4.15E-06
29743 10 I/V 12 rs1456621451 0.3042 None gnomAD-4.0.0 1.61508E-06
29744 11 A/T 13 rs201592005 0.4633 None gnomAD-2.1.1 4.15E-05
29744 11 A/T 13 rs201592005 0.4633 None gnomAD-3.1.2 4.6E-05
29744 11 A/T 13 rs201592005 0.4633 None gnomAD-4.0.0 2.86767E-05
29745 12 D/E 14 None 0.6708 None gnomAD-4.0.0 1.20032E-06
29745 12 D/H 14 None 0.6708 None gnomAD-4.0.0 1.61087E-06
29746 13 S/L 15 rs1228690169 0.4543 None gnomAD-3.1.2 6.57E-06
29746 13 S/L 15 rs1228690169 0.4543 None gnomAD-4.0.0 2.58321E-06
29747 14 T/A 16 None 0.4620 None gnomAD-4.0.0 4.80129E-06
29747 14 T/S 16 rs2154152263 0.4620 None gnomAD-2.1.1 4.1885E-04
29747 14 T/S 16 rs2154152263 0.4620 None gnomAD-3.1.2 1.117E-04
29747 14 T/S 16 rs2154152263 0.4620 None 1000 genomes 5.99042E-04
29747 14 T/S 16 rs2154152263 0.4620 None gnomAD-4.0.0 6.56444E-06
29748 15 K/N 17 None 0.9980 None gnomAD-4.0.0 4.11903E-06
29748 15 K/T 17 rs2154152255 0.9980 None gnomAD-4.0.0 1.20032E-06
29751 18 I/F 20 rs1367538790 0.1586 None gnomAD-2.1.1 4.07E-06
29751 18 I/F 20 rs1367538790 0.1586 None gnomAD-4.0.0 1.59996E-06
29751 18 I/T 20 rs397517742 0.1586 None gnomAD-3.1.2 6.57E-06
29751 18 I/T 20 rs397517742 0.1586 None gnomAD-4.0.0 2.57309E-06
29751 18 I/V 20 rs1367538790 0.1586 None gnomAD-2.1.1 7.22E-06
29751 18 I/V 20 rs1367538790 0.1586 None gnomAD-3.1.2 1.31E-05
29751 18 I/V 20 rs1367538790 0.1586 None gnomAD-4.0.0 6.4333E-06
29752 19 T/A 21 rs1181316587 0.2890 None gnomAD-2.1.1 4.07E-06
29752 19 T/A 21 rs1181316587 0.2890 None gnomAD-4.0.0 1.59962E-06
29753 20 L/F 22 rs1700246631 0.1315 None gnomAD-3.1.2 6.57E-06
29753 20 L/F 22 rs1700246631 0.1315 None gnomAD-4.0.0 6.57022E-06
29753 20 L/H 22 rs369279892 0.1315 None gnomAD-2.1.1 1.62E-05
29753 20 L/H 22 rs369279892 0.1315 None gnomAD-3.1.2 1.31E-05
29753 20 L/H 22 rs369279892 0.1315 None gnomAD-4.0.0 5.14028E-06
29754 21 G/D 23 rs769191835 0.1176 None gnomAD-2.1.1 1.44E-05
29754 21 G/D 23 rs769191835 0.1176 None gnomAD-3.1.2 6.57E-06
29754 21 G/D 23 rs769191835 0.1176 None gnomAD-4.0.0 1.36477E-05
29754 21 G/R 23 rs1208704177 0.1176 None gnomAD-4.0.0 1.59529E-06
29755 22 W/C 24 None 0.1313 None gnomAD-4.0.0 2.0534E-06
29756 23 S/G 25 None 0.2450 None gnomAD-4.0.0 1.20032E-06
29756 23 S/R 25 None 0.2450 None gnomAD-4.0.0 1.59237E-06
29759 26 V/I 28 None 1.1026 None gnomAD-4.0.0 1.59199E-06
29761 28 D/G 30 None 0.3151 None gnomAD-4.0.0 6.84273E-07
29762 29 G/W 31 rs369701999 0.2227 None gnomAD-2.1.1 8.06E-06
29762 29 G/W 31 rs369701999 0.2227 None gnomAD-4.0.0 2.05285E-06
29763 30 G/V 32 None 0.5801 None gnomAD-4.0.0 1.5915E-06
29764 31 S/G 33 rs777230019 0.3147 None gnomAD-2.1.1 4.03E-06
29764 31 S/G 33 rs777230019 0.3147 None gnomAD-3.1.2 1.31E-05
29764 31 S/G 33 rs777230019 0.3147 None gnomAD-4.0.0 1.36333E-05
29764 31 S/N 33 None 0.3147 None gnomAD-4.0.0 1.59139E-06
29766 33 V/F 35 rs780822733 0.2486 None gnomAD-2.1.1 4.03E-06
29766 33 V/L 35 rs780822733 0.2486 None gnomAD-2.1.1 4.03E-06
29766 33 V/L 35 rs780822733 0.2486 None gnomAD-4.0.0 8.895E-06
29768 35 G/R 37 None 0.1518 None gnomAD-4.0.0 2.05261E-06
29769 36 Y/F 38 rs1343373479 0.1528 None gnomAD-2.1.1 4.02E-06
29769 36 Y/F 38 rs1343373479 0.1528 None gnomAD-4.0.0 1.59123E-06
29770 37 V/A 39 rs755018367 0.2740 None gnomAD-2.1.1 2.01E-05
29770 37 V/A 39 rs755018367 0.2740 None gnomAD-3.1.2 3.94E-05
29770 37 V/A 39 rs755018367 0.2740 None gnomAD-4.0.0 1.85908E-05
29772 39 E/K 41 None 0.1324 None gnomAD-2.1.1 2.394E-04
29772 39 E/K 41 None 0.1324 None gnomAD-3.1.2 2.82631E-04
29772 39 E/K 41 None 0.1324 None 1000 genomes 1.99681E-04
29772 39 E/K 41 None 0.1324 None gnomAD-4.0.0 2.80701E-04
29772 39 E/Q 41 rs200503016 0.1324 None gnomAD-3.1.2 6.57E-06
29772 39 E/Q 41 rs200503016 0.1324 None gnomAD-4.0.0 6.57281E-06
29773 40 I/L 42 rs77853750 0.1470 None gnomAD-2.1.1 3.29385E-03
29773 40 I/L 42 rs77853750 0.1470 None gnomAD-3.1.2 1.01061E-02
29773 40 I/L 42 rs77853750 0.1470 None 1000 genomes 1.05831E-02
29773 40 I/L 42 rs77853750 0.1470 None gnomAD-4.0.0 6.84197E-07
29774 41 R/K 43 rs750672440 0.2007 None gnomAD-2.1.1 3.19E-05
29774 41 R/K 43 rs750672440 0.2007 None gnomAD-3.1.2 3.29E-05
29774 41 R/K 43 rs750672440 0.2007 None gnomAD-4.0.0 6.19669E-06
29775 42 Q/H 44 None 0.4383 None gnomAD-4.0.0 1.59116E-06
29775 42 Q/R 44 None 0.4383 None gnomAD-4.0.0 1.59118E-06
29776 43 G/E 50 None 0.3146 None gnomAD-4.0.0 1.59118E-06
29779 46 E/K 63 None 0.9740 None gnomAD-4.0.0 1.59116E-06
29781 48 W/C 65 rs1385379230 0.2594 None gnomAD-2.1.1 4.02E-06
29781 48 W/C 65 rs1385379230 0.2594 None gnomAD-4.0.0 1.59114E-06
29781 48 W/R 65 rs765435839 0.2594 None gnomAD-2.1.1 4.02E-06
29781 48 W/R 65 rs765435839 0.2594 None gnomAD-3.1.2 6.57E-06
29781 48 W/R 65 rs765435839 0.2594 None gnomAD-4.0.0 1.23936E-06
29781 48 W/S 65 None 0.2594 None gnomAD-4.0.0 1.59115E-06
29782 49 T/I 66 rs1400626224 0.5717 None gnomAD-3.1.2 6.57E-06
29782 49 T/I 66 rs1400626224 0.5717 None gnomAD-4.0.0 6.57281E-06
29782 49 T/S 66 None 0.5717 None gnomAD-4.0.0 1.59114E-06
29784 51 V/D 68 rs1187385222 0.2497 None gnomAD-2.1.1 4.02E-06
29784 51 V/D 68 rs1187385222 0.2497 None gnomAD-4.0.0 3.18227E-06
29784 51 V/L 68 rs1316888674 0.2497 None gnomAD-3.1.2 6.57E-06
29784 51 V/L 68 rs1316888674 0.2497 None gnomAD-4.0.0 2.56201E-06
29785 52 S/F 69 None 0.1578 None gnomAD-4.0.0 2.40065E-06
29786 53 T/I 70 rs753966916 0.6237 None gnomAD-2.1.1 3.93E-05
29786 53 T/I 70 rs753966916 0.6237 None gnomAD-3.1.2 8.55E-05
29786 53 T/I 70 rs753966916 0.6237 None gnomAD-4.0.0 1.85911E-05
29786 53 T/S 70 None 0.6237 None gnomAD-4.0.0 2.05257E-06
29787 54 K/E 72 rs1217080477 1.1303 None gnomAD-2.1.1 1.21E-05
29787 54 K/E 72 rs1217080477 1.1303 None gnomAD-4.0.0 4.77345E-06
29787 54 K/N 72 None 1.1303 None gnomAD-4.0.0 2.40064E-06
29788 55 G/E 74 rs1700219498 0.4560 None gnomAD-3.1.2 6.57E-06
29788 55 G/E 74 rs1700219498 0.4560 None gnomAD-4.0.0 6.57203E-06
29788 55 G/R 74 rs761199633 0.4560 None gnomAD-2.1.1 4.02E-06
29788 55 G/R 74 rs761199633 0.4560 None gnomAD-4.0.0 3.18227E-06
29789 56 E/D 75 None 0.3153 None gnomAD-4.0.0 6.84189E-07
29790 57 V/I 77 rs775906983 0.1239 None gnomAD-2.1.1 2.01E-05
29790 57 V/I 77 rs775906983 0.1239 None gnomAD-4.0.0 6.84184E-06
29791 58 R/S 83 None 0.7181 None gnomAD-4.0.0 1.20032E-06
29791 58 R/T 83 rs1360436599 0.7181 None gnomAD-2.1.1 4.02E-06
29791 58 R/T 83 rs1360436599 0.7181 None gnomAD-4.0.0 3.18227E-06
29792 59 T/I 88 rs876658091 0.6286 None gnomAD-2.1.1 1.07E-05
29792 59 T/I 88 rs876658091 0.6286 None gnomAD-3.1.2 3.29E-05
29792 59 T/I 88 rs876658091 0.6286 None gnomAD-4.0.0 3.34628E-05
29794 61 E/D 90 rs1700216447 0.5350 None gnomAD-4.0.0 1.20033E-06
29796 63 V/M 92 rs72648237 0.4612 None gnomAD-2.1.1 1.18939E-03
29796 63 V/M 92 rs72648237 0.4612 None gnomAD-3.1.2 7.55704E-04
29796 63 V/M 92 rs72648237 0.4612 None 1000 genomes 9.98403E-04
29796 63 V/M 92 rs72648237 0.4612 None gnomAD-4.0.0 9.64759E-04
29797 64 V/A 93 None 0.1752 None gnomAD-4.0.0 1.59115E-06
29797 64 V/E 93 rs1431345773 0.1752 None gnomAD-2.1.1 4.02E-06
29797 64 V/E 93 rs1431345773 0.1752 None gnomAD-4.0.0 1.59115E-06
29798 65 S/A 94 rs886055232 0.4812 None gnomAD-4.0.0 2.05255E-06
29798 65 S/F 94 None 0.4812 None gnomAD-4.0.0 2.05258E-06
29798 65 S/P 94 rs886055232 0.4812 None gnomAD-2.1.1 4.02E-06
29798 65 S/P 94 rs886055232 0.4812 None gnomAD-4.0.0 6.84185E-07
29798 65 S/Y 94 rs1344691856 0.4812 None gnomAD-2.1.1 4.02E-06
29798 65 S/Y 94 rs1344691856 0.4812 None gnomAD-4.0.0 3.42096E-06
29799 66 N/H 96 None 0.9102 None gnomAD-4.0.0 1.20046E-06
29799 66 N/S 96 None 0.9102 None gnomAD-4.0.0 1.20032E-06
29799 66 N/T 96 rs371949055 0.9102 None gnomAD-2.1.1 6.37E-05
29799 66 N/T 96 rs371949055 0.9102 None gnomAD-3.1.2 1.31E-05
29799 66 N/T 96 rs371949055 0.9102 None gnomAD-4.0.0 1.31413E-05
29802 69 P/H 99 rs769366983 0.6569 None gnomAD-2.1.1 1.61E-05
29802 69 P/H 99 rs769366983 0.6569 None gnomAD-4.0.0 7.52613E-06
29802 69 P/L 99 rs769366983 0.6569 None gnomAD-4.0.0 6.84194E-07
29802 69 P/R 99 None 0.6569 None gnomAD-4.0.0 6.84194E-07
29802 69 P/S 99 rs1301048848 0.6569 None gnomAD-2.1.1 4.02E-06
29802 69 P/S 99 rs1301048848 0.6569 None gnomAD-4.0.0 2.05256E-06
29802 69 P/T 99 None 0.6569 None gnomAD-4.0.0 6.84187E-07
29803 70 G/E 100 rs1264984362 0.4722 None gnomAD-3.1.2 6.57E-06
29803 70 G/E 100 rs1264984362 0.4722 None gnomAD-4.0.0 6.57056E-06
29803 70 G/V 100 rs1264984362 0.4722 None gnomAD-3.1.2 6.57E-06
29803 70 G/V 100 rs1264984362 0.4722 None gnomAD-4.0.0 1.23933E-06
29804 71 V/A 102 rs776305807 0.2472 None gnomAD-2.1.1 1.21E-05
29804 71 V/A 102 rs776305807 0.2472 None gnomAD-4.0.0 2.05259E-06
29804 71 V/G 102 rs776305807 0.2472 None gnomAD-4.0.0 2.73679E-06
29804 71 V/I 102 rs747784568 0.2472 None gnomAD-2.1.1 2.41E-05
29804 71 V/I 102 rs747784568 0.2472 None gnomAD-4.0.0 1.71049E-05
29805 72 N/S 103 rs369285180 0.5144 None gnomAD-2.1.1 1.61E-05
29805 72 N/S 103 rs369285180 0.5144 None gnomAD-3.1.2 3.28E-05
29805 72 N/S 103 rs369285180 0.5144 None gnomAD-4.0.0 1.04102E-04
29806 73 Y/D 104 rs982322225 0.1177 None gnomAD-2.1.1 4.02E-06
29806 73 Y/D 104 rs982322225 0.1177 None gnomAD-4.0.0 1.59115E-06
29807 74 Y/C 105 None 0.3101 None gnomAD-4.0.0 2.05259E-06
29807 74 Y/S 105 None 0.3101 None gnomAD-4.0.0 6.84196E-07
29809 76 R/Q 107 rs72648238 0.1346 None gnomAD-2.1.1 6.42926E-04
29809 76 R/Q 107 rs72648238 0.1346 None gnomAD-3.1.2 8.01777E-04
29809 76 R/Q 107 rs72648238 0.1346 None 1000 genomes 1.99681E-04
29809 76 R/Q 107 rs72648238 0.1346 None gnomAD-4.0.0 7.98096E-04
29809 76 R/W 107 rs112777680 0.1346 None gnomAD-3.1.2 6.57E-06
29809 76 R/W 107 rs112777680 0.1346 None gnomAD-4.0.0 1.30137E-05
29810 77 V/I 108 rs745716789 0.0945 None gnomAD-2.1.1 4.02E-06
29810 77 V/I 108 rs745716789 0.0945 None gnomAD-4.0.0 1.59117E-06
29812 79 A/P 110 None 0.0928 None gnomAD-4.0.0 1.59118E-06
29812 79 A/V 110 None 0.0928 None gnomAD-4.0.0 3.60097E-06
29813 80 V/L 111 None 0.1990 None gnomAD-4.0.0 1.59116E-06
29816 83 A/T 114 rs1202640947 0.5359 None gnomAD-2.1.1 4.02E-06
29816 83 A/T 114 rs1202640947 0.5359 None gnomAD-4.0.0 4.77377E-06
29817 84 G/A 115 rs778747498 0.2282 None gnomAD-3.1.2 6.57E-06
29817 84 G/A 115 rs778747498 0.2282 None gnomAD-4.0.0 6.56987E-06
29817 84 G/E 115 rs778747498 0.2282 None gnomAD-2.1.1 4.02E-06
29817 84 G/E 115 rs778747498 0.2282 None gnomAD-4.0.0 1.36844E-06
29818 85 Q/K 117 None 0.4820 None gnomAD-4.0.0 1.59127E-06
29820 87 E/K 119 rs1700193837 0.6519 None gnomAD-4.0.0 2.0528E-06
29821 88 P/A 120 rs1469989307 0.3051 None gnomAD-3.1.2 6.57E-06
29821 88 P/A 120 rs1469989307 0.3051 None gnomAD-4.0.0 6.57177E-06
29821 88 P/S 120 None 0.3051 None gnomAD-4.0.0 1.20032E-06
29822 89 I/M 121 rs754018369 0.1774 None gnomAD-2.1.1 4.03E-06
29822 89 I/M 121 rs754018369 0.1774 None gnomAD-4.0.0 1.59175E-06
29822 89 I/T 121 None 0.1774 None gnomAD-4.0.0 2.73721E-06
29822 89 I/V 121 None 0.1774 None gnomAD-4.0.0 1.20032E-06
29824 91 M/R 123 rs764161774 0.2253 None gnomAD-2.1.1 8.06E-06
29824 91 M/R 123 rs764161774 0.2253 None gnomAD-4.0.0 8.2129E-06
29824 91 M/T 123 None 0.2253 None gnomAD-4.0.0 6.84408E-07
29825 92 N/S 124 None 0.9872 None gnomAD-4.0.0 1.59243E-06
29826 93 E/V 125 rs1345868585 0.6492 None gnomAD-2.1.1 4.03E-06
29826 93 E/V 125 rs1345868585 0.6492 None gnomAD-4.0.0 1.59277E-06
29827 94 P/H 126 rs1432117509 0.3453 None gnomAD-3.1.2 1.31E-05
29827 94 P/H 126 rs1432117509 0.3453 None gnomAD-4.0.0 1.85987E-06
29827 94 P/R 126 None 0.3453 None gnomAD-4.0.0 6.84555E-07
29827 94 P/S 126 None 0.3453 None gnomAD-4.0.0 6.8452E-07
29827 94 P/T 126 rs201620815 0.3453 None gnomAD-2.1.1 2.25969E-04
29827 94 P/T 126 rs201620815 0.3453 None gnomAD-3.1.2 5.26E-05
29827 94 P/T 126 rs201620815 0.3453 None 1000 genomes 1.99681E-04
29827 94 P/T 126 rs201620815 0.3453 None gnomAD-4.0.0 9.29844E-05
29828 95 V/I 127 None 0.2964 None gnomAD-4.0.0 1.20033E-06
29829 96 Q/E 129 None 0.6262 None gnomAD-4.0.0 6.84816E-07
29829 96 Q/H 129 rs1700184989 0.6262 None gnomAD-3.1.2 6.57E-06
29829 96 Q/H 129 rs1700184989 0.6262 None gnomAD-4.0.0 1.20033E-06
29829 96 Q/K 129 rs1700185971 0.6262 None gnomAD-3.1.2 6.57E-06
29829 96 Q/K 129 rs1700185971 0.6262 None gnomAD-4.0.0 1.24034E-06
29830 97 A/T 130 rs183476312 0.6071 None gnomAD-2.1.1 4.06E-06
29830 97 A/T 130 rs183476312 0.6071 None 1000 genomes 1.99681E-04
29831 98 K/E 131 rs774632104 0.8970 None gnomAD-2.1.1 3.25E-05
29831 98 K/E 131 rs774632104 0.8970 None gnomAD-3.1.2 4.6E-05
29831 98 K/E 131 rs774632104 0.8970 None gnomAD-4.0.0 6.39671E-05
29831 98 K/T 131 rs1404072291 0.8970 None gnomAD-3.1.2 1.31E-05
29831 98 K/T 131 rs1404072291 0.8970 None gnomAD-4.0.0 5.14775E-06