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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 0.5594 None gnomAD-2.1.1 7.16E-06
20569 1 R/K 1 rs371014957 0.5594 None gnomAD-3.1.2 1.32E-05
20569 1 R/K 1 rs371014957 0.5594 None gnomAD-4.0.0 3.78162E-05
20570 2 P/A 2 rs769184808 0.1220 None gnomAD-2.1.1 8.06E-06
20570 2 P/A 2 rs769184808 0.1220 None gnomAD-3.1.2 6.58E-06
20570 2 P/A 2 rs769184808 0.1220 None gnomAD-4.0.0 6.81924E-06
20571 3 G/W 3 None 0.2441 None gnomAD-4.0.0 6.8446E-07
20572 4 P/A 4 None 0.4768 None gnomAD-4.0.0 7.52908E-06
20572 4 P/S 4 rs1333184630 0.4768 None gnomAD-2.1.1 4.03E-06
20572 4 P/S 4 rs1333184630 0.4768 None gnomAD-4.0.0 6.84463E-07
20572 4 P/T 4 rs1333184630 0.4768 None gnomAD-3.1.2 6.58E-06
20572 4 P/T 4 rs1333184630 0.4768 None gnomAD-4.0.0 6.57765E-06
20573 5 C/R 5 rs780691741 0.1095 None gnomAD-2.1.1 4.03E-06
20573 5 C/R 5 rs780691741 0.1095 None gnomAD-4.0.0 2.05336E-06
20574 6 Q/R 6 rs1176666570 0.2651 None gnomAD-2.1.1 4.03E-06
20575 7 N/D 7 rs779775208 0.5368 None gnomAD-2.1.1 4.03E-06
20575 7 N/D 7 rs779775208 0.5368 None gnomAD-4.0.0 1.3689E-06
20575 7 N/H 7 rs779775208 0.5368 None gnomAD-2.1.1 4.03E-06
20575 7 N/H 7 rs779775208 0.5368 None gnomAD-4.0.0 2.05336E-06
20578 10 V/L 12 None 0.2758 None gnomAD-4.0.0 1.20032E-06
20579 11 T/I 13 None 0.4719 None gnomAD-4.0.0 1.20032E-06
20580 12 N/H 14 rs2049862820 0.7176 None gnomAD-3.1.2 6.58E-06
20580 12 N/H 14 rs2049862820 0.7176 None gnomAD-4.0.0 6.57523E-06
20580 12 N/S 14 rs1470758075 0.7176 None gnomAD-2.1.1 8.06E-06
20580 12 N/S 14 rs1470758075 0.7176 None gnomAD-4.0.0 1.36893E-06
20581 13 V/A 15 rs727504849 0.3741 None gnomAD-2.1.1 4.03E-06
20581 13 V/A 15 rs727504849 0.3741 None gnomAD-3.1.2 1.32E-05
20581 13 V/A 15 rs727504849 0.3741 None gnomAD-4.0.0 2.47975E-06
20581 13 V/G 15 rs727504849 0.3741 None gnomAD-4.0.0 2.05339E-06
20581 13 V/L 15 rs1559576334 0.3741 None gnomAD-2.1.1 4.03E-06
20581 13 V/L 15 rs1559576334 0.3741 None gnomAD-4.0.0 1.59266E-06
20583 15 K/R 17 None 0.4098 None gnomAD-4.0.0 1.20032E-06
20584 16 E/K 18 None 0.5095 None gnomAD-4.0.0 2.40064E-06
20585 17 N/Y 19 rs574383177 0.2880 None gnomAD-2.1.1 4.03E-06
20585 17 N/Y 19 rs574383177 0.2880 None gnomAD-3.1.2 6.58E-06
20585 17 N/Y 19 rs574383177 0.2880 None 1000 genomes 1.99681E-04
20585 17 N/Y 19 rs574383177 0.2880 None gnomAD-4.0.0 1.85967E-06
20587 19 T/I 21 rs757267029 0.2698 None gnomAD-4.0.0 1.59262E-06
20587 19 T/K 21 None 0.2698 None gnomAD-2.1.1 4.03E-06
20587 19 T/K 21 None 0.2698 None gnomAD-4.0.0 4.77786E-06
20587 19 T/R 21 rs757267029 0.2698 None gnomAD-2.1.1 3.19E-05
20587 19 T/R 21 rs757267029 0.2698 None gnomAD-3.1.2 6.58E-06
20587 19 T/R 21 rs757267029 0.2698 None gnomAD-4.0.0 6.57704E-06
20591 23 E/K 25 rs1327237859 0.3802 None gnomAD-2.1.1 4.03E-06
20591 23 E/K 25 rs1327237859 0.3802 None gnomAD-4.0.0 1.59264E-06
20592 24 N/I 26 rs2049855196 0.5565 None gnomAD-4.0.0 1.20032E-06
20592 24 N/K 26 rs554308191 0.5565 None gnomAD-2.1.1 8.06E-06
20592 24 N/K 26 rs554308191 0.5565 None gnomAD-4.0.0 3.4223E-06
20594 26 L/P 28 None 1.0114 None gnomAD-4.0.0 2.73781E-06
20594 26 L/Q 28 None 1.0114 None gnomAD-4.0.0 6.84452E-07
20596 28 N/D 30 None 0.3278 None gnomAD-4.0.0 3.60097E-06
20597 29 G/S 31 rs767743135 0.0823 None gnomAD-2.1.1 4.03E-06
20597 29 G/S 31 rs767743135 0.0823 None gnomAD-4.0.0 1.3689E-06
20598 30 G/D 32 None 0.2630 None gnomAD-4.0.0 1.20032E-06
20598 30 G/V 32 None 0.2630 None gnomAD-4.0.0 1.20032E-06
20600 32 E/D 34 rs1337048658 0.7467 None gnomAD-2.1.1 4.02E-06
20600 32 E/D 34 rs1337048658 0.7467 None gnomAD-4.0.0 1.59248E-06
20601 33 I/L 35 None 0.2144 None gnomAD-4.0.0 1.20032E-06
20601 33 I/M 35 rs760014192 0.2144 None gnomAD-2.1.1 4.02E-06
20601 33 I/M 35 rs760014192 0.2144 None gnomAD-4.0.0 1.59243E-06
20602 34 T/I 36 rs1342930607 0.3333 None gnomAD-4.0.0 1.5924E-06
20605 37 I/M 39 rs761374262 0.2858 None gnomAD-2.1.1 1.79E-05
20605 37 I/M 39 rs761374262 0.2858 None gnomAD-3.1.2 1.97E-05
20605 37 I/M 39 rs761374262 0.2858 None gnomAD-4.0.0 2.6654E-05
20605 37 I/T 39 rs140252432 0.2858 None gnomAD-2.1.1 2.41E-05
20605 37 I/T 39 rs140252432 0.2858 None gnomAD-3.1.2 1.97E-05
20605 37 I/T 39 rs140252432 0.2858 None 1000 genomes 3.99361E-04
20605 37 I/T 39 rs140252432 0.2858 None gnomAD-4.0.0 7.69038E-06
20605 37 I/V 39 rs759096564 0.2858 None gnomAD-2.1.1 1.21E-05
20605 37 I/V 39 rs759096564 0.2858 None gnomAD-4.0.0 8.21292E-06
20607 39 E/D 41 None 0.1104 None gnomAD-4.0.0 2.0532E-06
20607 39 E/K 41 None 0.1104 None gnomAD-4.0.0 1.59233E-06
20607 39 E/Q 41 rs1396768636 0.1104 None gnomAD-4.0.0 1.59233E-06
20609 41 R/C 43 rs786205389 0.1282 None gnomAD-2.1.1 4.02E-06
20609 41 R/C 43 rs786205389 0.1282 None gnomAD-3.1.2 1.97E-05
20609 41 R/C 43 rs786205389 0.1282 None gnomAD-4.0.0 4.15323E-05
20609 41 R/H 43 rs372546292 0.1282 None gnomAD-2.1.1 2.01E-05
20609 41 R/H 43 rs372546292 0.1282 None gnomAD-3.1.2 3.95E-05
20609 41 R/H 43 rs372546292 0.1282 None gnomAD-4.0.0 1.30178E-05
20611 43 P/S 50 None 0.2944 None gnomAD-4.0.0 3.60097E-06
20613 45 Q/H 60 None 0.2437 None gnomAD-4.0.0 1.59215E-06
20613 45 Q/R 60 rs768175805 0.2437 None gnomAD-2.1.1 4.02E-06
20613 45 Q/R 60 rs768175805 0.2437 None gnomAD-3.1.2 6.57E-06
20613 45 Q/R 60 rs768175805 0.2437 None gnomAD-4.0.0 8.97201E-06
20615 47 G/A 64 rs780002348 0.3629 None gnomAD-2.1.1 2.81E-05
20615 47 G/A 64 rs780002348 0.3629 None gnomAD-3.1.2 1.97E-05
20615 47 G/A 64 rs780002348 0.3629 None gnomAD-4.0.0 1.41007E-05
20615 47 G/S 64 rs746925906 0.3629 None gnomAD-2.1.1 4.02E-06
20615 47 G/S 64 rs746925906 0.3629 None gnomAD-4.0.0 1.59213E-06
20615 47 G/V 64 None 0.3629 None gnomAD-4.0.0 1.59214E-06
20616 48 W/C 65 None 0.2310 None gnomAD-4.0.0 1.59212E-06
20617 49 S/P 66 rs1243949460 0.2043 None gnomAD-2.1.1 4.02E-06
20617 49 S/P 66 rs1243949460 0.2043 None gnomAD-3.1.2 6.58E-06
20617 49 S/P 66 rs1243949460 0.2043 None gnomAD-4.0.0 3.84534E-06
20618 50 I/T 67 rs901919886 0.5556 None gnomAD-4.0.0 2.73742E-06
20618 50 I/V 67 rs1216529341 0.5556 None gnomAD-2.1.1 8.04E-06
20618 50 I/V 67 rs1216529341 0.5556 None gnomAD-4.0.0 1.36871E-06
20619 51 V/F 68 rs1377163743 0.2786 None gnomAD-4.0.0 1.59211E-06
20619 51 V/L 68 None 0.2786 None gnomAD-4.0.0 1.59211E-06
20620 52 A/P 69 None 0.2670 None gnomAD-4.0.0 1.20033E-06
20622 54 D/E 75 None 0.4559 None gnomAD-4.0.0 1.59201E-06
20625 57 K/E 88 rs2049837055 0.5974 None gnomAD-4.0.0 1.36869E-06
20626 58 R/Q 89 rs745731267 0.4472 None gnomAD-2.1.1 8.04E-06
20626 58 R/Q 89 rs745731267 0.4472 None gnomAD-3.1.2 6.58E-06
20626 58 R/Q 89 rs745731267 0.4472 None gnomAD-4.0.0 1.05375E-05
20627 59 L/S 91 None 0.5995 None gnomAD-4.0.0 1.20032E-06
20628 60 I/V 92 rs778583635 0.2079 None gnomAD-2.1.1 4.02E-06
20628 60 I/V 92 rs778583635 0.2079 None gnomAD-4.0.0 1.59194E-06
20629 61 K/E 93 None 0.5353 None gnomAD-4.0.0 1.20032E-06
20630 62 A/D 94 None 0.1462 None gnomAD-4.0.0 6.84328E-07
20630 62 A/G 94 None 0.1462 None gnomAD-4.0.0 6.84328E-07
20630 62 A/T 94 None 0.1462 None gnomAD-4.0.0 1.59194E-06
20630 62 A/V 94 rs2154184048 0.1462 None gnomAD-4.0.0 6.84328E-07
20631 63 N/D 96 None 0.8183 None gnomAD-4.0.0 1.20032E-06
20631 63 N/K 96 rs940775890 0.8183 None gnomAD-2.1.1 4.02E-06
20631 63 N/K 96 rs940775890 0.8183 None gnomAD-4.0.0 3.42163E-06
20631 63 N/S 96 rs2049834334 0.8183 None gnomAD-4.0.0 1.59188E-06
20632 64 L/H 97 None 0.1216 None gnomAD-4.0.0 1.59184E-06
20633 65 L/S 98 rs1227248928 0.6859 None gnomAD-2.1.1 4.02E-06
20633 65 L/S 98 rs1227248928 0.6859 None gnomAD-4.0.0 6.15877E-06
20635 67 N/D 100 rs2049831678 0.7582 None gnomAD-4.0.0 1.20032E-06
20635 67 N/K 100 rs749547976 0.7582 None gnomAD-2.1.1 4.02E-06
20635 67 N/K 100 rs749547976 0.7582 None gnomAD-4.0.0 1.59184E-06
20636 68 N/S 102 rs2154184029 0.2356 None gnomAD-4.0.0 2.05294E-06
20637 69 E/V 103 None 0.2768 None gnomAD-4.0.0 1.5918E-06
20638 70 Y/H 104 rs777982609 0.0810 None gnomAD-2.1.1 4.02E-06
20638 70 Y/H 104 rs777982609 0.0810 None gnomAD-4.0.0 1.59183E-06
20639 71 Y/C 105 rs756303390 0.1817 None gnomAD-2.1.1 1.07E-05
20639 71 Y/C 105 rs756303390 0.1817 None gnomAD-3.1.2 4.6E-05
20639 71 Y/C 105 rs756303390 0.1817 None gnomAD-4.0.0 1.36356E-05
20639 71 Y/H 105 rs727503587 0.1817 None gnomAD-2.1.1 7.13E-06
20639 71 Y/H 105 rs727503587 0.1817 None gnomAD-3.1.2 2.63E-05
20639 71 Y/H 105 rs727503587 0.1817 None gnomAD-4.0.0 1.02519E-05
20641 73 R/Q 107 rs199895260 0.1409 None gnomAD-2.1.1 2.77913E-03
20641 73 R/Q 107 rs199895260 0.1409 None gnomAD-3.1.2 2.39332E-03
20641 73 R/Q 107 rs199895260 0.1409 None 1000 genomes 9.98403E-04
20641 73 R/Q 107 rs199895260 0.1409 None gnomAD-4.0.0 2.76723E-03
20642 74 V/L 108 None 0.0892 None gnomAD-4.0.0 1.59177E-06
20643 75 C/R 109 None 0.1301 None gnomAD-4.0.0 1.20032E-06
20643 75 C/S 109 None 0.1301 None gnomAD-4.0.0 6.843E-07
20643 75 C/Y 109 rs879181408 0.1301 None gnomAD-2.1.1 4.02E-06
20643 75 C/Y 109 rs879181408 0.1301 None gnomAD-3.1.2 6.57E-06
20643 75 C/Y 109 rs879181408 0.1301 None gnomAD-4.0.0 6.19783E-06
20646 78 N/D 112 rs755455461 0.0902 None gnomAD-2.1.1 4.02E-06
20646 78 N/D 112 rs755455461 0.0902 None gnomAD-4.0.0 4.77525E-06
20646 78 N/K 112 None 0.0902 None gnomAD-4.0.0 6.84303E-07
20647 79 K/Q 113 rs751883286 0.6337 None gnomAD-2.1.1 8.04E-06
20647 79 K/Q 113 rs751883286 0.6337 None gnomAD-4.0.0 1.59175E-06
20648 80 V/G 114 rs1576076651 0.3369 None gnomAD-4.0.0 1.59177E-06
20650 82 V/I 117 rs373298871 0.3900 None gnomAD-2.1.1 8.04E-06
20650 82 V/I 117 rs373298871 0.3900 None gnomAD-3.1.2 6.57E-06
20650 82 V/I 117 rs373298871 0.3900 None gnomAD-4.0.0 5.57814E-06
20651 83 G/R 118 rs1488229576 0.1939 None gnomAD-2.1.1 4.02E-06
20653 85 T/I 120 rs1553641323 0.3906 None gnomAD-4.0.0 2.73722E-06
20653 85 T/S 120 None 0.3906 None gnomAD-4.0.0 6.84304E-07
20654 86 I/T 121 rs1244996285 0.2829 None gnomAD-2.1.1 4.02E-06
20654 86 I/T 121 rs1244996285 0.2829 None gnomAD-4.0.0 1.59178E-06
20655 87 E/K 122 rs776314797 0.2446 None gnomAD-2.1.1 2.01E-05
20655 87 E/K 122 rs776314797 0.2446 None gnomAD-3.1.2 1.97E-05
20655 87 E/K 122 rs776314797 0.2446 None gnomAD-4.0.0 4.46266E-05
20656 88 T/I 123 rs1363633199 0.1861 None gnomAD-4.0.0 2.73722E-06
20656 88 T/K 123 rs1363633199 0.1861 None gnomAD-4.0.0 6.84305E-07
20659 91 P/R 126 None 0.2350 None gnomAD-4.0.0 1.59179E-06
20662 94 A/P 130 None 0.0727 None gnomAD-4.0.0 1.59175E-06
20662 94 A/V 130 rs760241038 0.0727 None gnomAD-2.1.1 4.02E-06
20662 94 A/V 130 rs760241038 0.0727 None gnomAD-4.0.0 1.59176E-06
20663 95 I/T 131 rs1297355642 0.3410 None gnomAD-2.1.1 4.02E-06
20663 95 I/T 131 rs1297355642 0.3410 None gnomAD-4.0.0 1.5917E-06
20663 95 I/V 131 None 0.3410 None gnomAD-4.0.0 6.84298E-06
20664 96 N/D 132 rs879206414 0.6595 None gnomAD-4.0.0 2.02981E-06
20664 96 N/I 132 rs1214786970 0.6595 None gnomAD-2.1.1 4.02E-06
20664 96 N/I 132 rs1214786970 0.6595 None gnomAD-3.1.2 6.58E-06
20664 96 N/I 132 rs1214786970 0.6595 None gnomAD-4.0.0 3.84458E-06
20664 96 N/K 132 rs376455983 0.6595 None gnomAD-2.1.1 2.86E-05
20664 96 N/K 132 rs376455983 0.6595 None gnomAD-3.1.2 5.26E-05
20664 96 N/K 132 rs376455983 0.6595 None gnomAD-4.0.0 2.7372E-06