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

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
20569 1 R/K 1 rs371014957 0.6560 None gnomAD-2.1.1 7.16E-06
20569 1 R/K 1 rs371014957 0.6560 None gnomAD-3.1.2 1.32E-05
20569 1 R/K 1 rs371014957 0.6560 None gnomAD-4.0.0 3.78162E-05
20570 2 P/A 2 rs769184808 0.1233 None gnomAD-2.1.1 8.06E-06
20570 2 P/A 2 rs769184808 0.1233 None gnomAD-3.1.2 6.58E-06
20570 2 P/A 2 rs769184808 0.1233 None gnomAD-4.0.0 6.81924E-06
20571 3 G/W 3 None 0.2281 None gnomAD-4.0.0 6.8446E-07
20572 4 P/A 4 None 0.4711 None gnomAD-4.0.0 7.52908E-06
20572 4 P/S 4 rs1333184630 0.4711 None gnomAD-2.1.1 4.03E-06
20572 4 P/S 4 rs1333184630 0.4711 None gnomAD-4.0.0 6.84463E-07
20572 4 P/T 4 rs1333184630 0.4711 None gnomAD-3.1.2 6.58E-06
20572 4 P/T 4 rs1333184630 0.4711 None gnomAD-4.0.0 6.57765E-06
20573 5 C/R 5 rs780691741 0.1077 None gnomAD-2.1.1 4.03E-06
20573 5 C/R 5 rs780691741 0.1077 None gnomAD-4.0.0 2.05336E-06
20574 6 Q/R 6 rs1176666570 0.2666 None gnomAD-2.1.1 4.03E-06
20575 7 N/D 7 rs779775208 0.5498 None gnomAD-2.1.1 4.03E-06
20575 7 N/D 7 rs779775208 0.5498 None gnomAD-4.0.0 1.3689E-06
20575 7 N/H 7 rs779775208 0.5498 None gnomAD-2.1.1 4.03E-06
20575 7 N/H 7 rs779775208 0.5498 None gnomAD-4.0.0 2.05336E-06
20578 10 V/L 12 None 0.2621 None gnomAD-4.0.0 1.20032E-06
20579 11 T/I 13 None 0.4471 None gnomAD-4.0.0 1.20032E-06
20580 12 N/H 14 rs2049862820 0.6194 None gnomAD-3.1.2 6.58E-06
20580 12 N/H 14 rs2049862820 0.6194 None gnomAD-4.0.0 6.57523E-06
20580 12 N/S 14 rs1470758075 0.6194 None gnomAD-2.1.1 8.06E-06
20580 12 N/S 14 rs1470758075 0.6194 None gnomAD-4.0.0 1.36893E-06
20581 13 V/A 15 rs727504849 0.2766 None gnomAD-2.1.1 4.03E-06
20581 13 V/A 15 rs727504849 0.2766 None gnomAD-3.1.2 1.32E-05
20581 13 V/A 15 rs727504849 0.2766 None gnomAD-4.0.0 2.47975E-06
20581 13 V/G 15 rs727504849 0.2766 None gnomAD-4.0.0 2.05339E-06
20581 13 V/L 15 rs1559576334 0.2766 None gnomAD-2.1.1 4.03E-06
20581 13 V/L 15 rs1559576334 0.2766 None gnomAD-4.0.0 1.59266E-06
20583 15 K/R 17 None 0.3148 None gnomAD-4.0.0 1.20032E-06
20584 16 E/K 18 None 0.4986 None gnomAD-4.0.0 2.40064E-06
20585 17 N/Y 19 rs574383177 0.2212 None gnomAD-2.1.1 4.03E-06
20585 17 N/Y 19 rs574383177 0.2212 None gnomAD-3.1.2 6.58E-06
20585 17 N/Y 19 rs574383177 0.2212 None 1000 genomes 1.99681E-04
20585 17 N/Y 19 rs574383177 0.2212 None gnomAD-4.0.0 1.85967E-06
20587 19 T/I 21 rs757267029 0.2131 None gnomAD-4.0.0 1.59262E-06
20587 19 T/K 21 None 0.2131 None gnomAD-2.1.1 4.03E-06
20587 19 T/K 21 None 0.2131 None gnomAD-4.0.0 4.77786E-06
20587 19 T/R 21 rs757267029 0.2131 None gnomAD-2.1.1 3.19E-05
20587 19 T/R 21 rs757267029 0.2131 None gnomAD-3.1.2 6.58E-06
20587 19 T/R 21 rs757267029 0.2131 None gnomAD-4.0.0 6.57704E-06
20591 23 E/K 25 rs1327237859 0.3903 None gnomAD-2.1.1 4.03E-06
20591 23 E/K 25 rs1327237859 0.3903 None gnomAD-4.0.0 1.59264E-06
20592 24 N/I 26 rs2049855196 0.5258 None gnomAD-4.0.0 1.20032E-06
20592 24 N/K 26 rs554308191 0.5258 None gnomAD-2.1.1 8.06E-06
20592 24 N/K 26 rs554308191 0.5258 None gnomAD-4.0.0 3.4223E-06
20594 26 L/P 28 None 0.9911 None gnomAD-4.0.0 2.73781E-06
20594 26 L/Q 28 None 0.9911 None gnomAD-4.0.0 6.84452E-07
20596 28 N/D 30 None 0.3364 None gnomAD-4.0.0 3.60097E-06
20597 29 G/S 31 rs767743135 0.3121 None gnomAD-2.1.1 4.03E-06
20597 29 G/S 31 rs767743135 0.3121 None gnomAD-4.0.0 1.3689E-06
20598 30 G/D 32 None 0.6302 None gnomAD-4.0.0 1.20032E-06
20598 30 G/V 32 None 0.6302 None gnomAD-4.0.0 1.20032E-06
20600 32 E/D 34 rs1337048658 0.8255 None gnomAD-2.1.1 4.02E-06
20600 32 E/D 34 rs1337048658 0.8255 None gnomAD-4.0.0 1.59248E-06
20601 33 I/L 35 None 0.1936 None gnomAD-4.0.0 1.20032E-06
20601 33 I/M 35 rs760014192 0.1936 None gnomAD-2.1.1 4.02E-06
20601 33 I/M 35 rs760014192 0.1936 None gnomAD-4.0.0 1.59243E-06
20602 34 T/I 36 rs1342930607 0.3426 None gnomAD-4.0.0 1.5924E-06
20605 37 I/M 39 rs761374262 0.2416 None gnomAD-2.1.1 1.79E-05
20605 37 I/M 39 rs761374262 0.2416 None gnomAD-3.1.2 1.97E-05
20605 37 I/M 39 rs761374262 0.2416 None gnomAD-4.0.0 2.6654E-05
20605 37 I/T 39 rs140252432 0.2416 None gnomAD-2.1.1 2.41E-05
20605 37 I/T 39 rs140252432 0.2416 None gnomAD-3.1.2 1.97E-05
20605 37 I/T 39 rs140252432 0.2416 None 1000 genomes 3.99361E-04
20605 37 I/T 39 rs140252432 0.2416 None gnomAD-4.0.0 7.69038E-06
20605 37 I/V 39 rs759096564 0.2416 None gnomAD-2.1.1 1.21E-05
20605 37 I/V 39 rs759096564 0.2416 None gnomAD-4.0.0 8.21292E-06
20607 39 E/D 41 None 0.1383 None gnomAD-4.0.0 2.0532E-06
20607 39 E/K 41 None 0.1383 None gnomAD-4.0.0 1.59233E-06
20607 39 E/Q 41 rs1396768636 0.1383 None gnomAD-4.0.0 1.59233E-06
20609 41 R/C 43 rs786205389 0.2396 None gnomAD-2.1.1 4.02E-06
20609 41 R/C 43 rs786205389 0.2396 None gnomAD-3.1.2 1.97E-05
20609 41 R/C 43 rs786205389 0.2396 None gnomAD-4.0.0 4.15323E-05
20609 41 R/H 43 rs372546292 0.2396 None gnomAD-2.1.1 2.01E-05
20609 41 R/H 43 rs372546292 0.2396 None gnomAD-3.1.2 3.95E-05
20609 41 R/H 43 rs372546292 0.2396 None gnomAD-4.0.0 1.30178E-05
20611 43 P/S 50 None 0.3506 None gnomAD-4.0.0 3.60097E-06
20613 45 Q/H 60 None 0.3053 None gnomAD-4.0.0 1.59215E-06
20613 45 Q/R 60 rs768175805 0.3053 None gnomAD-2.1.1 4.02E-06
20613 45 Q/R 60 rs768175805 0.3053 None gnomAD-3.1.2 6.57E-06
20613 45 Q/R 60 rs768175805 0.3053 None gnomAD-4.0.0 8.97201E-06
20615 47 G/A 64 rs780002348 0.3367 None gnomAD-2.1.1 2.81E-05
20615 47 G/A 64 rs780002348 0.3367 None gnomAD-3.1.2 1.97E-05
20615 47 G/A 64 rs780002348 0.3367 None gnomAD-4.0.0 1.41007E-05
20615 47 G/S 64 rs746925906 0.3367 None gnomAD-2.1.1 4.02E-06
20615 47 G/S 64 rs746925906 0.3367 None gnomAD-4.0.0 1.59213E-06
20615 47 G/V 64 None 0.3367 None gnomAD-4.0.0 1.59214E-06
20616 48 W/C 65 None 0.2305 None gnomAD-4.0.0 1.59212E-06
20617 49 S/P 66 rs1243949460 0.2159 None gnomAD-2.1.1 4.02E-06
20617 49 S/P 66 rs1243949460 0.2159 None gnomAD-3.1.2 6.58E-06
20617 49 S/P 66 rs1243949460 0.2159 None gnomAD-4.0.0 3.84534E-06
20618 50 I/T 67 rs901919886 0.5422 None gnomAD-4.0.0 2.73742E-06
20618 50 I/V 67 rs1216529341 0.5422 None gnomAD-2.1.1 8.04E-06
20618 50 I/V 67 rs1216529341 0.5422 None gnomAD-4.0.0 1.36871E-06
20619 51 V/F 68 rs1377163743 0.2656 None gnomAD-4.0.0 1.59211E-06
20619 51 V/L 68 None 0.2656 None gnomAD-4.0.0 1.59211E-06
20620 52 A/P 69 None 0.1939 None gnomAD-4.0.0 1.20033E-06
20622 54 D/E 75 None 0.7822 None gnomAD-4.0.0 1.59201E-06
20625 57 K/E 88 rs2049837055 0.8173 None gnomAD-4.0.0 1.36869E-06
20626 58 R/Q 89 rs745731267 0.4709 None gnomAD-2.1.1 8.04E-06
20626 58 R/Q 89 rs745731267 0.4709 None gnomAD-3.1.2 6.58E-06
20626 58 R/Q 89 rs745731267 0.4709 None gnomAD-4.0.0 1.05375E-05
20627 59 L/S 91 None 0.5148 None gnomAD-4.0.0 1.20032E-06
20628 60 I/V 92 rs778583635 0.1976 None gnomAD-2.1.1 4.02E-06
20628 60 I/V 92 rs778583635 0.1976 None gnomAD-4.0.0 1.59194E-06
20629 61 K/E 93 None 0.5105 None gnomAD-4.0.0 1.20032E-06
20630 62 A/D 94 None 0.1250 None gnomAD-4.0.0 6.84328E-07
20630 62 A/G 94 None 0.1250 None gnomAD-4.0.0 6.84328E-07
20630 62 A/T 94 None 0.1250 None gnomAD-4.0.0 1.59194E-06
20630 62 A/V 94 rs2154184048 0.1250 None gnomAD-4.0.0 6.84328E-07
20631 63 N/D 96 None 0.8075 None gnomAD-4.0.0 1.20032E-06
20631 63 N/K 96 rs940775890 0.8075 None gnomAD-2.1.1 4.02E-06
20631 63 N/K 96 rs940775890 0.8075 None gnomAD-4.0.0 3.42163E-06
20631 63 N/S 96 rs2049834334 0.8075 None gnomAD-4.0.0 1.59188E-06
20632 64 L/H 97 None 0.1066 None gnomAD-4.0.0 1.59184E-06
20633 65 L/S 98 rs1227248928 0.6648 None gnomAD-2.1.1 4.02E-06
20633 65 L/S 98 rs1227248928 0.6648 None gnomAD-4.0.0 6.15877E-06
20635 67 N/D 100 rs2049831678 0.7984 None gnomAD-4.0.0 1.20032E-06
20635 67 N/K 100 rs749547976 0.7984 None gnomAD-2.1.1 4.02E-06
20635 67 N/K 100 rs749547976 0.7984 None gnomAD-4.0.0 1.59184E-06
20636 68 N/S 102 rs2154184029 0.2520 None gnomAD-4.0.0 2.05294E-06
20637 69 E/V 103 None 0.3690 None gnomAD-4.0.0 1.5918E-06
20638 70 Y/H 104 rs777982609 0.0825 None gnomAD-2.1.1 4.02E-06
20638 70 Y/H 104 rs777982609 0.0825 None gnomAD-4.0.0 1.59183E-06
20639 71 Y/C 105 rs756303390 0.2235 None gnomAD-2.1.1 1.07E-05
20639 71 Y/C 105 rs756303390 0.2235 None gnomAD-3.1.2 4.6E-05
20639 71 Y/C 105 rs756303390 0.2235 None gnomAD-4.0.0 1.36356E-05
20639 71 Y/H 105 rs727503587 0.2235 None gnomAD-2.1.1 7.13E-06
20639 71 Y/H 105 rs727503587 0.2235 None gnomAD-3.1.2 2.63E-05
20639 71 Y/H 105 rs727503587 0.2235 None gnomAD-4.0.0 1.02519E-05
20641 73 R/Q 107 rs199895260 0.1366 None gnomAD-2.1.1 2.77913E-03
20641 73 R/Q 107 rs199895260 0.1366 None gnomAD-3.1.2 2.39332E-03
20641 73 R/Q 107 rs199895260 0.1366 None 1000 genomes 9.98403E-04
20641 73 R/Q 107 rs199895260 0.1366 None gnomAD-4.0.0 2.76723E-03
20642 74 V/L 108 None 0.0909 None gnomAD-4.0.0 1.59177E-06
20643 75 C/R 109 None 0.1269 None gnomAD-4.0.0 1.20032E-06
20643 75 C/S 109 None 0.1269 None gnomAD-4.0.0 6.843E-07
20643 75 C/Y 109 rs879181408 0.1269 None gnomAD-2.1.1 4.02E-06
20643 75 C/Y 109 rs879181408 0.1269 None gnomAD-3.1.2 6.57E-06
20643 75 C/Y 109 rs879181408 0.1269 None gnomAD-4.0.0 6.19783E-06
20646 78 N/D 112 rs755455461 0.1019 None gnomAD-2.1.1 4.02E-06
20646 78 N/D 112 rs755455461 0.1019 None gnomAD-4.0.0 4.77525E-06
20646 78 N/K 112 None 0.1019 None gnomAD-4.0.0 6.84303E-07
20647 79 K/Q 113 rs751883286 0.6436 None gnomAD-2.1.1 8.04E-06
20647 79 K/Q 113 rs751883286 0.6436 None gnomAD-4.0.0 1.59175E-06
20648 80 V/G 114 rs1576076651 0.5806 None gnomAD-4.0.0 1.59177E-06
20650 82 V/I 117 rs373298871 0.3742 None gnomAD-2.1.1 8.04E-06
20650 82 V/I 117 rs373298871 0.3742 None gnomAD-3.1.2 6.57E-06
20650 82 V/I 117 rs373298871 0.3742 None gnomAD-4.0.0 5.57814E-06
20651 83 G/R 118 rs1488229576 0.1952 None gnomAD-2.1.1 4.02E-06
20653 85 T/I 120 rs1553641323 0.3603 None gnomAD-4.0.0 2.73722E-06
20653 85 T/S 120 None 0.3603 None gnomAD-4.0.0 6.84304E-07
20654 86 I/T 121 rs1244996285 0.2764 None gnomAD-2.1.1 4.02E-06
20654 86 I/T 121 rs1244996285 0.2764 None gnomAD-4.0.0 1.59178E-06
20655 87 E/K 122 rs776314797 0.3009 None gnomAD-2.1.1 2.01E-05
20655 87 E/K 122 rs776314797 0.3009 None gnomAD-3.1.2 1.97E-05
20655 87 E/K 122 rs776314797 0.3009 None gnomAD-4.0.0 4.46266E-05
20656 88 T/I 123 rs1363633199 0.2119 None gnomAD-4.0.0 2.73722E-06
20656 88 T/K 123 rs1363633199 0.2119 None gnomAD-4.0.0 6.84305E-07
20659 91 P/R 126 None 0.2629 None gnomAD-4.0.0 1.59179E-06
20662 94 A/P 130 None 0.0653 None gnomAD-4.0.0 1.59175E-06
20662 94 A/V 130 rs760241038 0.0653 None gnomAD-2.1.1 4.02E-06
20662 94 A/V 130 rs760241038 0.0653 None gnomAD-4.0.0 1.59176E-06
20663 95 I/T 131 rs1297355642 0.4670 None gnomAD-2.1.1 4.02E-06
20663 95 I/T 131 rs1297355642 0.4670 None gnomAD-4.0.0 1.5917E-06
20663 95 I/V 131 None 0.4670 None gnomAD-4.0.0 6.84298E-06
20664 96 N/D 132 rs879206414 0.2791 None gnomAD-4.0.0 2.02981E-06
20664 96 N/I 132 rs1214786970 0.2791 None gnomAD-2.1.1 4.02E-06
20664 96 N/I 132 rs1214786970 0.2791 None gnomAD-3.1.2 6.58E-06
20664 96 N/I 132 rs1214786970 0.2791 None gnomAD-4.0.0 3.84458E-06
20664 96 N/K 132 rs376455983 0.2791 None gnomAD-2.1.1 2.86E-05
20664 96 N/K 132 rs376455983 0.2791 None gnomAD-3.1.2 5.26E-05
20664 96 N/K 132 rs376455983 0.2791 None gnomAD-4.0.0 2.7372E-06