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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
D V T C R D V I T V R V G Q T I R I L A R V K G R P E P D I T W T K E G K V L V R E K R V D L I Q D L P R V E L Q I K E A V R A D H G K Y I I S A K N S S G H A Q G S A I V N V L D 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
- - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - 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 0.5380 None gnomAD-2.1.1 7.16E-06
20569 1 R/K 1 rs371014957 0.5380 None gnomAD-3.1.2 1.32E-05
20569 1 R/K 1 rs371014957 0.5380 None gnomAD-4.0.0 3.78162E-05
20570 2 P/A 2 rs769184808 0.1247 None gnomAD-2.1.1 8.06E-06
20570 2 P/A 2 rs769184808 0.1247 None gnomAD-3.1.2 6.58E-06
20570 2 P/A 2 rs769184808 0.1247 None gnomAD-4.0.0 6.81924E-06
20571 3 G/W 3 None 0.2357 None gnomAD-4.0.0 6.8446E-07
20572 4 P/A 4 None 0.4654 None gnomAD-4.0.0 7.52908E-06
20572 4 P/S 4 rs1333184630 0.4654 None gnomAD-2.1.1 4.03E-06
20572 4 P/S 4 rs1333184630 0.4654 None gnomAD-4.0.0 6.84463E-07
20572 4 P/T 4 rs1333184630 0.4654 None gnomAD-3.1.2 6.58E-06
20572 4 P/T 4 rs1333184630 0.4654 None gnomAD-4.0.0 6.57765E-06
20573 5 C/R 5 rs780691741 0.1110 None gnomAD-2.1.1 4.03E-06
20573 5 C/R 5 rs780691741 0.1110 None gnomAD-4.0.0 2.05336E-06
20574 6 Q/R 6 rs1176666570 0.3107 None gnomAD-2.1.1 4.03E-06
20575 7 N/D 7 rs779775208 0.5831 None gnomAD-2.1.1 4.03E-06
20575 7 N/D 7 rs779775208 0.5831 None gnomAD-4.0.0 1.3689E-06
20575 7 N/H 7 rs779775208 0.5831 None gnomAD-2.1.1 4.03E-06
20575 7 N/H 7 rs779775208 0.5831 None gnomAD-4.0.0 2.05336E-06
20578 10 V/L 12 None 0.2890 None gnomAD-4.0.0 1.20032E-06
20579 11 T/I 13 None 0.4850 None gnomAD-4.0.0 1.20032E-06
20580 12 N/H 14 rs2049862820 0.7278 None gnomAD-3.1.2 6.58E-06
20580 12 N/H 14 rs2049862820 0.7278 None gnomAD-4.0.0 6.57523E-06
20580 12 N/S 14 rs1470758075 0.7278 None gnomAD-2.1.1 8.06E-06
20580 12 N/S 14 rs1470758075 0.7278 None gnomAD-4.0.0 1.36893E-06
20581 13 V/A 15 rs727504849 0.3417 None gnomAD-2.1.1 4.03E-06
20581 13 V/A 15 rs727504849 0.3417 None gnomAD-3.1.2 1.32E-05
20581 13 V/A 15 rs727504849 0.3417 None gnomAD-4.0.0 2.47975E-06
20581 13 V/G 15 rs727504849 0.3417 None gnomAD-4.0.0 2.05339E-06
20581 13 V/L 15 rs1559576334 0.3417 None gnomAD-2.1.1 4.03E-06
20581 13 V/L 15 rs1559576334 0.3417 None gnomAD-4.0.0 1.59266E-06
20583 15 K/R 17 None 0.3708 None gnomAD-4.0.0 1.20032E-06
20584 16 E/K 18 None 0.5253 None gnomAD-4.0.0 2.40064E-06
20585 17 N/Y 19 rs574383177 0.2332 None gnomAD-2.1.1 4.03E-06
20585 17 N/Y 19 rs574383177 0.2332 None gnomAD-3.1.2 6.58E-06
20585 17 N/Y 19 rs574383177 0.2332 None 1000 genomes 1.99681E-04
20585 17 N/Y 19 rs574383177 0.2332 None gnomAD-4.0.0 1.85967E-06
20587 19 T/I 21 rs757267029 0.2239 None gnomAD-4.0.0 1.59262E-06
20587 19 T/K 21 None 0.2239 None gnomAD-2.1.1 4.03E-06
20587 19 T/K 21 None 0.2239 None gnomAD-4.0.0 4.77786E-06
20587 19 T/R 21 rs757267029 0.2239 None gnomAD-2.1.1 3.19E-05
20587 19 T/R 21 rs757267029 0.2239 None gnomAD-3.1.2 6.58E-06
20587 19 T/R 21 rs757267029 0.2239 None gnomAD-4.0.0 6.57704E-06
20591 23 E/K 25 rs1327237859 0.3733 None gnomAD-2.1.1 4.03E-06
20591 23 E/K 25 rs1327237859 0.3733 None gnomAD-4.0.0 1.59264E-06
20592 24 N/I 26 rs2049855196 0.5675 None gnomAD-4.0.0 1.20032E-06
20592 24 N/K 26 rs554308191 0.5675 None gnomAD-2.1.1 8.06E-06
20592 24 N/K 26 rs554308191 0.5675 None gnomAD-4.0.0 3.4223E-06
20594 26 L/P 28 None 1.1436 None gnomAD-4.0.0 2.73781E-06
20594 26 L/Q 28 None 1.1436 None gnomAD-4.0.0 6.84452E-07
20596 28 N/D 30 None 0.3454 None gnomAD-4.0.0 3.60097E-06
20597 29 G/S 31 rs767743135 0.1057 None gnomAD-2.1.1 4.03E-06
20597 29 G/S 31 rs767743135 0.1057 None gnomAD-4.0.0 1.3689E-06
20598 30 G/D 32 None 0.3026 None gnomAD-4.0.0 1.20032E-06
20598 30 G/V 32 None 0.3026 None gnomAD-4.0.0 1.20032E-06
20600 32 E/D 34 rs1337048658 0.8522 None gnomAD-2.1.1 4.02E-06
20600 32 E/D 34 rs1337048658 0.8522 None gnomAD-4.0.0 1.59248E-06
20601 33 I/L 35 None 0.2229 None gnomAD-4.0.0 1.20032E-06
20601 33 I/M 35 rs760014192 0.2229 None gnomAD-2.1.1 4.02E-06
20601 33 I/M 35 rs760014192 0.2229 None gnomAD-4.0.0 1.59243E-06
20602 34 T/I 36 rs1342930607 0.3311 None gnomAD-4.0.0 1.5924E-06
20605 37 I/M 39 rs761374262 0.2250 None gnomAD-2.1.1 1.79E-05
20605 37 I/M 39 rs761374262 0.2250 None gnomAD-3.1.2 1.97E-05
20605 37 I/M 39 rs761374262 0.2250 None gnomAD-4.0.0 2.6654E-05
20605 37 I/T 39 rs140252432 0.2250 None gnomAD-2.1.1 2.41E-05
20605 37 I/T 39 rs140252432 0.2250 None gnomAD-3.1.2 1.97E-05
20605 37 I/T 39 rs140252432 0.2250 None 1000 genomes 3.99361E-04
20605 37 I/T 39 rs140252432 0.2250 None gnomAD-4.0.0 7.69038E-06
20605 37 I/V 39 rs759096564 0.2250 None gnomAD-2.1.1 1.21E-05
20605 37 I/V 39 rs759096564 0.2250 None gnomAD-4.0.0 8.21292E-06
20607 39 E/D 41 None 0.1276 None gnomAD-4.0.0 2.0532E-06
20607 39 E/K 41 None 0.1276 None gnomAD-4.0.0 1.59233E-06
20607 39 E/Q 41 rs1396768636 0.1276 None gnomAD-4.0.0 1.59233E-06
20609 41 R/C 43 rs786205389 0.1462 None gnomAD-2.1.1 4.02E-06
20609 41 R/C 43 rs786205389 0.1462 None gnomAD-3.1.2 1.97E-05
20609 41 R/C 43 rs786205389 0.1462 None gnomAD-4.0.0 4.15323E-05
20609 41 R/H 43 rs372546292 0.1462 None gnomAD-2.1.1 2.01E-05
20609 41 R/H 43 rs372546292 0.1462 None gnomAD-3.1.2 3.95E-05
20609 41 R/H 43 rs372546292 0.1462 None gnomAD-4.0.0 1.30178E-05
20611 43 P/S 50 None 0.2908 None gnomAD-4.0.0 3.60097E-06
20613 45 Q/H 60 None 0.2531 None gnomAD-4.0.0 1.59215E-06
20613 45 Q/R 60 rs768175805 0.2531 None gnomAD-2.1.1 4.02E-06
20613 45 Q/R 60 rs768175805 0.2531 None gnomAD-3.1.2 6.57E-06
20613 45 Q/R 60 rs768175805 0.2531 None gnomAD-4.0.0 8.97201E-06
20615 47 G/A 64 rs780002348 0.3726 None gnomAD-2.1.1 2.81E-05
20615 47 G/A 64 rs780002348 0.3726 None gnomAD-3.1.2 1.97E-05
20615 47 G/A 64 rs780002348 0.3726 None gnomAD-4.0.0 1.41007E-05
20615 47 G/S 64 rs746925906 0.3726 None gnomAD-2.1.1 4.02E-06
20615 47 G/S 64 rs746925906 0.3726 None gnomAD-4.0.0 1.59213E-06
20615 47 G/V 64 None 0.3726 None gnomAD-4.0.0 1.59214E-06
20616 48 W/C 65 None 0.2413 None gnomAD-4.0.0 1.59212E-06
20617 49 S/P 66 rs1243949460 0.1962 None gnomAD-2.1.1 4.02E-06
20617 49 S/P 66 rs1243949460 0.1962 None gnomAD-3.1.2 6.58E-06
20617 49 S/P 66 rs1243949460 0.1962 None gnomAD-4.0.0 3.84534E-06
20618 50 I/T 67 rs901919886 0.5305 None gnomAD-4.0.0 2.73742E-06
20618 50 I/V 67 rs1216529341 0.5305 None gnomAD-2.1.1 8.04E-06
20618 50 I/V 67 rs1216529341 0.5305 None gnomAD-4.0.0 1.36871E-06
20619 51 V/F 68 rs1377163743 0.2536 None gnomAD-4.0.0 1.59211E-06
20619 51 V/L 68 None 0.2536 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 0.7557 None gnomAD-4.0.0 1.59201E-06
20625 57 K/E 88 rs2049837055 0.8206 None gnomAD-4.0.0 1.36869E-06
20626 58 R/Q 89 rs745731267 0.4598 None gnomAD-2.1.1 8.04E-06
20626 58 R/Q 89 rs745731267 0.4598 None gnomAD-3.1.2 6.58E-06
20626 58 R/Q 89 rs745731267 0.4598 None gnomAD-4.0.0 1.05375E-05
20627 59 L/S 91 None 0.4959 None gnomAD-4.0.0 1.20032E-06
20628 60 I/V 92 rs778583635 0.1980 None gnomAD-2.1.1 4.02E-06
20628 60 I/V 92 rs778583635 0.1980 None gnomAD-4.0.0 1.59194E-06
20629 61 K/E 93 None 0.4918 None gnomAD-4.0.0 1.20032E-06
20630 62 A/D 94 None 0.1271 None gnomAD-4.0.0 6.84328E-07
20630 62 A/G 94 None 0.1271 None gnomAD-4.0.0 6.84328E-07
20630 62 A/T 94 None 0.1271 None gnomAD-4.0.0 1.59194E-06
20630 62 A/V 94 rs2154184048 0.1271 None gnomAD-4.0.0 6.84328E-07
20631 63 N/D 96 None 0.8042 None gnomAD-4.0.0 1.20032E-06
20631 63 N/K 96 rs940775890 0.8042 None gnomAD-2.1.1 4.02E-06
20631 63 N/K 96 rs940775890 0.8042 None gnomAD-4.0.0 3.42163E-06
20631 63 N/S 96 rs2049834334 0.8042 None gnomAD-4.0.0 1.59188E-06
20632 64 L/H 97 None 0.1160 None gnomAD-4.0.0 1.59184E-06
20633 65 L/S 98 rs1227248928 0.6812 None gnomAD-2.1.1 4.02E-06
20633 65 L/S 98 rs1227248928 0.6812 None gnomAD-4.0.0 6.15877E-06
20635 67 N/D 100 rs2049831678 0.8068 None gnomAD-4.0.0 1.20032E-06
20635 67 N/K 100 rs749547976 0.8068 None gnomAD-2.1.1 4.02E-06
20635 67 N/K 100 rs749547976 0.8068 None gnomAD-4.0.0 1.59184E-06
20636 68 N/S 102 rs2154184029 0.2461 None gnomAD-4.0.0 2.05294E-06
20637 69 E/V 103 None 0.3739 None gnomAD-4.0.0 1.5918E-06
20638 70 Y/H 104 rs777982609 0.0758 None gnomAD-2.1.1 4.02E-06
20638 70 Y/H 104 rs777982609 0.0758 None gnomAD-4.0.0 1.59183E-06
20639 71 Y/C 105 rs756303390 0.1973 None gnomAD-2.1.1 1.07E-05
20639 71 Y/C 105 rs756303390 0.1973 None gnomAD-3.1.2 4.6E-05
20639 71 Y/C 105 rs756303390 0.1973 None gnomAD-4.0.0 1.36356E-05
20639 71 Y/H 105 rs727503587 0.1973 None gnomAD-2.1.1 7.13E-06
20639 71 Y/H 105 rs727503587 0.1973 None gnomAD-3.1.2 2.63E-05
20639 71 Y/H 105 rs727503587 0.1973 None gnomAD-4.0.0 1.02519E-05
20641 73 R/Q 107 rs199895260 0.1335 None gnomAD-2.1.1 2.77913E-03
20641 73 R/Q 107 rs199895260 0.1335 None gnomAD-3.1.2 2.39332E-03
20641 73 R/Q 107 rs199895260 0.1335 None 1000 genomes 9.98403E-04
20641 73 R/Q 107 rs199895260 0.1335 None gnomAD-4.0.0 2.76723E-03
20642 74 V/L 108 None 0.0828 None gnomAD-4.0.0 1.59177E-06
20643 75 C/R 109 None 0.1203 None gnomAD-4.0.0 1.20032E-06
20643 75 C/S 109 None 0.1203 None gnomAD-4.0.0 6.843E-07
20643 75 C/Y 109 rs879181408 0.1203 None gnomAD-2.1.1 4.02E-06
20643 75 C/Y 109 rs879181408 0.1203 None gnomAD-3.1.2 6.57E-06
20643 75 C/Y 109 rs879181408 0.1203 None gnomAD-4.0.0 6.19783E-06
20646 78 N/D 112 rs755455461 0.0829 None gnomAD-2.1.1 4.02E-06
20646 78 N/D 112 rs755455461 0.0829 None gnomAD-4.0.0 4.77525E-06
20646 78 N/K 112 None 0.0829 None gnomAD-4.0.0 6.84303E-07
20647 79 K/Q 113 rs751883286 0.7039 None gnomAD-2.1.1 8.04E-06
20647 79 K/Q 113 rs751883286 0.7039 None gnomAD-4.0.0 1.59175E-06
20648 80 V/G 114 rs1576076651 0.2420 None gnomAD-4.0.0 1.59177E-06
20650 82 V/I 117 rs373298871 0.3486 None gnomAD-2.1.1 8.04E-06
20650 82 V/I 117 rs373298871 0.3486 None gnomAD-3.1.2 6.57E-06
20650 82 V/I 117 rs373298871 0.3486 None gnomAD-4.0.0 5.57814E-06
20651 83 G/R 118 rs1488229576 0.1932 None gnomAD-2.1.1 4.02E-06
20653 85 T/I 120 rs1553641323 0.3573 None gnomAD-4.0.0 2.73722E-06
20653 85 T/S 120 None 0.3573 None gnomAD-4.0.0 6.84304E-07
20654 86 I/T 121 rs1244996285 0.2706 None gnomAD-2.1.1 4.02E-06
20654 86 I/T 121 rs1244996285 0.2706 None gnomAD-4.0.0 1.59178E-06
20655 87 E/K 122 rs776314797 0.2954 None gnomAD-2.1.1 2.01E-05
20655 87 E/K 122 rs776314797 0.2954 None gnomAD-3.1.2 1.97E-05
20655 87 E/K 122 rs776314797 0.2954 None gnomAD-4.0.0 4.46266E-05
20656 88 T/I 123 rs1363633199 0.2191 None gnomAD-4.0.0 2.73722E-06
20656 88 T/K 123 rs1363633199 0.2191 None gnomAD-4.0.0 6.84305E-07
20659 91 P/R 126 None 0.2694 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 0.4173 None gnomAD-2.1.1 4.02E-06
20663 95 I/T 131 rs1297355642 0.4173 None gnomAD-4.0.0 1.5917E-06
20663 95 I/V 131 None 0.4173 None gnomAD-4.0.0 6.84298E-06
20664 96 N/D 132 rs879206414 0.5149 None gnomAD-4.0.0 2.02981E-06
20664 96 N/I 132 rs1214786970 0.5149 None gnomAD-2.1.1 4.02E-06
20664 96 N/I 132 rs1214786970 0.5149 None gnomAD-3.1.2 6.58E-06
20664 96 N/I 132 rs1214786970 0.5149 None gnomAD-4.0.0 3.84458E-06
20664 96 N/K 132 rs376455983 0.5149 None gnomAD-2.1.1 2.86E-05
20664 96 N/K 132 rs376455983 0.5149 None gnomAD-3.1.2 5.26E-05
20664 96 N/K 132 rs376455983 0.5149 None gnomAD-4.0.0 2.7372E-06