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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
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 0.6287 None gnomAD-2.1.1 7.16E-06
20569 1 R/K 1 rs371014957 0.6287 None gnomAD-3.1.2 1.32E-05
20569 1 R/K 1 rs371014957 0.6287 None gnomAD-4.0.0 3.78162E-05
20570 2 P/A 2 rs769184808 0.1186 None gnomAD-2.1.1 8.06E-06
20570 2 P/A 2 rs769184808 0.1186 None gnomAD-3.1.2 6.58E-06
20570 2 P/A 2 rs769184808 0.1186 None gnomAD-4.0.0 6.81924E-06
20571 3 G/W 3 None 0.2232 None gnomAD-4.0.0 6.8446E-07
20572 4 P/A 4 None 0.4918 None gnomAD-4.0.0 7.52908E-06
20572 4 P/S 4 rs1333184630 0.4918 None gnomAD-2.1.1 4.03E-06
20572 4 P/S 4 rs1333184630 0.4918 None gnomAD-4.0.0 6.84463E-07
20572 4 P/T 4 rs1333184630 0.4918 None gnomAD-3.1.2 6.58E-06
20572 4 P/T 4 rs1333184630 0.4918 None gnomAD-4.0.0 6.57765E-06
20573 5 C/R 5 rs780691741 0.1161 None gnomAD-2.1.1 4.03E-06
20573 5 C/R 5 rs780691741 0.1161 None gnomAD-4.0.0 2.05336E-06
20574 6 Q/R 6 rs1176666570 0.2542 None gnomAD-2.1.1 4.03E-06
20575 7 N/D 7 rs779775208 0.5493 None gnomAD-2.1.1 4.03E-06
20575 7 N/D 7 rs779775208 0.5493 None gnomAD-4.0.0 1.3689E-06
20575 7 N/H 7 rs779775208 0.5493 None gnomAD-2.1.1 4.03E-06
20575 7 N/H 7 rs779775208 0.5493 None gnomAD-4.0.0 2.05336E-06
20578 10 V/L 12 None 0.2730 None gnomAD-4.0.0 1.20032E-06
20579 11 T/I 13 None 0.4633 None gnomAD-4.0.0 1.20032E-06
20580 12 N/H 14 rs2049862820 0.6510 None gnomAD-3.1.2 6.58E-06
20580 12 N/H 14 rs2049862820 0.6510 None gnomAD-4.0.0 6.57523E-06
20580 12 N/S 14 rs1470758075 0.6510 None gnomAD-2.1.1 8.06E-06
20580 12 N/S 14 rs1470758075 0.6510 None gnomAD-4.0.0 1.36893E-06
20581 13 V/A 15 rs727504849 0.3148 None gnomAD-2.1.1 4.03E-06
20581 13 V/A 15 rs727504849 0.3148 None gnomAD-3.1.2 1.32E-05
20581 13 V/A 15 rs727504849 0.3148 None gnomAD-4.0.0 2.47975E-06
20581 13 V/G 15 rs727504849 0.3148 None gnomAD-4.0.0 2.05339E-06
20581 13 V/L 15 rs1559576334 0.3148 None gnomAD-2.1.1 4.03E-06
20581 13 V/L 15 rs1559576334 0.3148 None gnomAD-4.0.0 1.59266E-06
20583 15 K/R 17 None 0.3705 None gnomAD-4.0.0 1.20032E-06
20584 16 E/K 18 None 0.5352 None gnomAD-4.0.0 2.40064E-06
20585 17 N/Y 19 rs574383177 0.2362 None gnomAD-2.1.1 4.03E-06
20585 17 N/Y 19 rs574383177 0.2362 None gnomAD-3.1.2 6.58E-06
20585 17 N/Y 19 rs574383177 0.2362 None 1000 genomes 1.99681E-04
20585 17 N/Y 19 rs574383177 0.2362 None gnomAD-4.0.0 1.85967E-06
20587 19 T/I 21 rs757267029 0.2205 None gnomAD-4.0.0 1.59262E-06
20587 19 T/K 21 None 0.2205 None gnomAD-2.1.1 4.03E-06
20587 19 T/K 21 None 0.2205 None gnomAD-4.0.0 4.77786E-06
20587 19 T/R 21 rs757267029 0.2205 None gnomAD-2.1.1 3.19E-05
20587 19 T/R 21 rs757267029 0.2205 None gnomAD-3.1.2 6.58E-06
20587 19 T/R 21 rs757267029 0.2205 None gnomAD-4.0.0 6.57704E-06
20591 23 E/K 25 rs1327237859 0.3604 None gnomAD-2.1.1 4.03E-06
20591 23 E/K 25 rs1327237859 0.3604 None gnomAD-4.0.0 1.59264E-06
20592 24 N/I 26 rs2049855196 0.4998 None gnomAD-4.0.0 1.20032E-06
20592 24 N/K 26 rs554308191 0.4998 None gnomAD-2.1.1 8.06E-06
20592 24 N/K 26 rs554308191 0.4998 None gnomAD-4.0.0 3.4223E-06
20594 26 L/P 28 None 0.9314 None gnomAD-4.0.0 2.73781E-06
20594 26 L/Q 28 None 0.9314 None gnomAD-4.0.0 6.84452E-07
20596 28 N/D 30 None 0.3299 None gnomAD-4.0.0 3.60097E-06
20597 29 G/S 31 rs767743135 0.3006 None gnomAD-2.1.1 4.03E-06
20597 29 G/S 31 rs767743135 0.3006 None gnomAD-4.0.0 1.3689E-06
20598 30 G/D 32 None 0.6362 None gnomAD-4.0.0 1.20032E-06
20598 30 G/V 32 None 0.6362 None gnomAD-4.0.0 1.20032E-06
20600 32 E/D 34 rs1337048658 0.8270 None gnomAD-2.1.1 4.02E-06
20600 32 E/D 34 rs1337048658 0.8270 None gnomAD-4.0.0 1.59248E-06
20601 33 I/L 35 None 0.1968 None gnomAD-4.0.0 1.20032E-06
20601 33 I/M 35 rs760014192 0.1968 None gnomAD-2.1.1 4.02E-06
20601 33 I/M 35 rs760014192 0.1968 None gnomAD-4.0.0 1.59243E-06
20602 34 T/I 36 rs1342930607 0.3578 None gnomAD-4.0.0 1.5924E-06
20605 37 I/M 39 rs761374262 0.2201 None gnomAD-2.1.1 1.79E-05
20605 37 I/M 39 rs761374262 0.2201 None gnomAD-3.1.2 1.97E-05
20605 37 I/M 39 rs761374262 0.2201 None gnomAD-4.0.0 2.6654E-05
20605 37 I/T 39 rs140252432 0.2201 None gnomAD-2.1.1 2.41E-05
20605 37 I/T 39 rs140252432 0.2201 None gnomAD-3.1.2 1.97E-05
20605 37 I/T 39 rs140252432 0.2201 None 1000 genomes 3.99361E-04
20605 37 I/T 39 rs140252432 0.2201 None gnomAD-4.0.0 7.69038E-06
20605 37 I/V 39 rs759096564 0.2201 None gnomAD-2.1.1 1.21E-05
20605 37 I/V 39 rs759096564 0.2201 None gnomAD-4.0.0 8.21292E-06
20607 39 E/D 41 None 0.1368 None gnomAD-4.0.0 2.0532E-06
20607 39 E/K 41 None 0.1368 None gnomAD-4.0.0 1.59233E-06
20607 39 E/Q 41 rs1396768636 0.1368 None gnomAD-4.0.0 1.59233E-06
20609 41 R/C 43 rs786205389 0.1857 None gnomAD-2.1.1 4.02E-06
20609 41 R/C 43 rs786205389 0.1857 None gnomAD-3.1.2 1.97E-05
20609 41 R/C 43 rs786205389 0.1857 None gnomAD-4.0.0 4.15323E-05
20609 41 R/H 43 rs372546292 0.1857 None gnomAD-2.1.1 2.01E-05
20609 41 R/H 43 rs372546292 0.1857 None gnomAD-3.1.2 3.95E-05
20609 41 R/H 43 rs372546292 0.1857 None gnomAD-4.0.0 1.30178E-05
20611 43 P/S 50 None 0.3295 None gnomAD-4.0.0 3.60097E-06
20613 45 Q/H 60 None 0.2828 None gnomAD-4.0.0 1.59215E-06
20613 45 Q/R 60 rs768175805 0.2828 None gnomAD-2.1.1 4.02E-06
20613 45 Q/R 60 rs768175805 0.2828 None gnomAD-3.1.2 6.57E-06
20613 45 Q/R 60 rs768175805 0.2828 None gnomAD-4.0.0 8.97201E-06
20615 47 G/A 64 rs780002348 0.3339 None gnomAD-2.1.1 2.81E-05
20615 47 G/A 64 rs780002348 0.3339 None gnomAD-3.1.2 1.97E-05
20615 47 G/A 64 rs780002348 0.3339 None gnomAD-4.0.0 1.41007E-05
20615 47 G/S 64 rs746925906 0.3339 None gnomAD-2.1.1 4.02E-06
20615 47 G/S 64 rs746925906 0.3339 None gnomAD-4.0.0 1.59213E-06
20615 47 G/V 64 None 0.3339 None gnomAD-4.0.0 1.59214E-06
20616 48 W/C 65 None 0.2394 None gnomAD-4.0.0 1.59212E-06
20617 49 S/P 66 rs1243949460 0.2218 None gnomAD-2.1.1 4.02E-06
20617 49 S/P 66 rs1243949460 0.2218 None gnomAD-3.1.2 6.58E-06
20617 49 S/P 66 rs1243949460 0.2218 None gnomAD-4.0.0 3.84534E-06
20618 50 I/T 67 rs901919886 0.5385 None gnomAD-4.0.0 2.73742E-06
20618 50 I/V 67 rs1216529341 0.5385 None gnomAD-2.1.1 8.04E-06
20618 50 I/V 67 rs1216529341 0.5385 None gnomAD-4.0.0 1.36871E-06
20619 51 V/F 68 rs1377163743 0.2607 None gnomAD-4.0.0 1.59211E-06
20619 51 V/L 68 None 0.2607 None gnomAD-4.0.0 1.59211E-06
20620 52 A/P 69 None 0.1967 None gnomAD-4.0.0 1.20033E-06
20622 54 D/E 75 None 0.7937 None gnomAD-4.0.0 1.59201E-06
20625 57 K/E 88 rs2049837055 0.8115 None gnomAD-4.0.0 1.36869E-06
20626 58 R/Q 89 rs745731267 0.4465 None gnomAD-2.1.1 8.04E-06
20626 58 R/Q 89 rs745731267 0.4465 None gnomAD-3.1.2 6.58E-06
20626 58 R/Q 89 rs745731267 0.4465 None gnomAD-4.0.0 1.05375E-05
20627 59 L/S 91 None 0.4852 None gnomAD-4.0.0 1.20032E-06
20628 60 I/V 92 rs778583635 0.2061 None gnomAD-2.1.1 4.02E-06
20628 60 I/V 92 rs778583635 0.2061 None gnomAD-4.0.0 1.59194E-06
20629 61 K/E 93 None 0.5050 None gnomAD-4.0.0 1.20032E-06
20630 62 A/D 94 None 0.1309 None gnomAD-4.0.0 6.84328E-07
20630 62 A/G 94 None 0.1309 None gnomAD-4.0.0 6.84328E-07
20630 62 A/T 94 None 0.1309 None gnomAD-4.0.0 1.59194E-06
20630 62 A/V 94 rs2154184048 0.1309 None gnomAD-4.0.0 6.84328E-07
20631 63 N/D 96 None 0.7885 None gnomAD-4.0.0 1.20032E-06
20631 63 N/K 96 rs940775890 0.7885 None gnomAD-2.1.1 4.02E-06
20631 63 N/K 96 rs940775890 0.7885 None gnomAD-4.0.0 3.42163E-06
20631 63 N/S 96 rs2049834334 0.7885 None gnomAD-4.0.0 1.59188E-06
20632 64 L/H 97 None 0.1128 None gnomAD-4.0.0 1.59184E-06
20633 65 L/S 98 rs1227248928 0.6359 None gnomAD-2.1.1 4.02E-06
20633 65 L/S 98 rs1227248928 0.6359 None gnomAD-4.0.0 6.15877E-06
20635 67 N/D 100 rs2049831678 0.7790 None gnomAD-4.0.0 1.20032E-06
20635 67 N/K 100 rs749547976 0.7790 None gnomAD-2.1.1 4.02E-06
20635 67 N/K 100 rs749547976 0.7790 None gnomAD-4.0.0 1.59184E-06
20636 68 N/S 102 rs2154184029 0.2535 None gnomAD-4.0.0 2.05294E-06
20637 69 E/V 103 None 0.3774 None gnomAD-4.0.0 1.5918E-06
20638 70 Y/H 104 rs777982609 0.0869 None gnomAD-2.1.1 4.02E-06
20638 70 Y/H 104 rs777982609 0.0869 None gnomAD-4.0.0 1.59183E-06
20639 71 Y/C 105 rs756303390 0.2267 None gnomAD-2.1.1 1.07E-05
20639 71 Y/C 105 rs756303390 0.2267 None gnomAD-3.1.2 4.6E-05
20639 71 Y/C 105 rs756303390 0.2267 None gnomAD-4.0.0 1.36356E-05
20639 71 Y/H 105 rs727503587 0.2267 None gnomAD-2.1.1 7.13E-06
20639 71 Y/H 105 rs727503587 0.2267 None gnomAD-3.1.2 2.63E-05
20639 71 Y/H 105 rs727503587 0.2267 None gnomAD-4.0.0 1.02519E-05
20641 73 R/Q 107 rs199895260 0.1373 None gnomAD-2.1.1 2.77913E-03
20641 73 R/Q 107 rs199895260 0.1373 None gnomAD-3.1.2 2.39332E-03
20641 73 R/Q 107 rs199895260 0.1373 None 1000 genomes 9.98403E-04
20641 73 R/Q 107 rs199895260 0.1373 None gnomAD-4.0.0 2.76723E-03
20642 74 V/L 108 None 0.0837 None gnomAD-4.0.0 1.59177E-06
20643 75 C/R 109 None 0.1223 None gnomAD-4.0.0 1.20032E-06
20643 75 C/S 109 None 0.1223 None gnomAD-4.0.0 6.843E-07
20643 75 C/Y 109 rs879181408 0.1223 None gnomAD-2.1.1 4.02E-06
20643 75 C/Y 109 rs879181408 0.1223 None gnomAD-3.1.2 6.57E-06
20643 75 C/Y 109 rs879181408 0.1223 None gnomAD-4.0.0 6.19783E-06
20646 78 N/D 112 rs755455461 0.1000 None gnomAD-2.1.1 4.02E-06
20646 78 N/D 112 rs755455461 0.1000 None gnomAD-4.0.0 4.77525E-06
20646 78 N/K 112 None 0.1000 None gnomAD-4.0.0 6.84303E-07
20647 79 K/Q 113 rs751883286 0.6547 None gnomAD-2.1.1 8.04E-06
20647 79 K/Q 113 rs751883286 0.6547 None gnomAD-4.0.0 1.59175E-06
20648 80 V/G 114 rs1576076651 0.5706 None gnomAD-4.0.0 1.59177E-06
20650 82 V/I 117 rs373298871 0.3663 None gnomAD-2.1.1 8.04E-06
20650 82 V/I 117 rs373298871 0.3663 None gnomAD-3.1.2 6.57E-06
20650 82 V/I 117 rs373298871 0.3663 None gnomAD-4.0.0 5.57814E-06
20651 83 G/R 118 rs1488229576 0.1942 None gnomAD-2.1.1 4.02E-06
20653 85 T/I 120 rs1553641323 0.3472 None gnomAD-4.0.0 2.73722E-06
20653 85 T/S 120 None 0.3472 None gnomAD-4.0.0 6.84304E-07
20654 86 I/T 121 rs1244996285 0.2473 None gnomAD-2.1.1 4.02E-06
20654 86 I/T 121 rs1244996285 0.2473 None gnomAD-4.0.0 1.59178E-06
20655 87 E/K 122 rs776314797 0.3033 None gnomAD-2.1.1 2.01E-05
20655 87 E/K 122 rs776314797 0.3033 None gnomAD-3.1.2 1.97E-05
20655 87 E/K 122 rs776314797 0.3033 None gnomAD-4.0.0 4.46266E-05
20656 88 T/I 123 rs1363633199 0.2092 None gnomAD-4.0.0 2.73722E-06
20656 88 T/K 123 rs1363633199 0.2092 None gnomAD-4.0.0 6.84305E-07
20659 91 P/R 126 None 0.2671 None gnomAD-4.0.0 1.59179E-06
20662 94 A/P 130 None 0.0708 None gnomAD-4.0.0 1.59175E-06
20662 94 A/V 130 rs760241038 0.0708 None gnomAD-2.1.1 4.02E-06
20662 94 A/V 130 rs760241038 0.0708 None gnomAD-4.0.0 1.59176E-06
20663 95 I/T 131 rs1297355642 0.5249 None gnomAD-2.1.1 4.02E-06
20663 95 I/T 131 rs1297355642 0.5249 None gnomAD-4.0.0 1.5917E-06
20663 95 I/V 131 None 0.5249 None gnomAD-4.0.0 6.84298E-06
20664 96 N/D 132 rs879206414 0.5690 None gnomAD-4.0.0 2.02981E-06
20664 96 N/I 132 rs1214786970 0.5690 None gnomAD-2.1.1 4.02E-06
20664 96 N/I 132 rs1214786970 0.5690 None gnomAD-3.1.2 6.58E-06
20664 96 N/I 132 rs1214786970 0.5690 None gnomAD-4.0.0 3.84458E-06
20664 96 N/K 132 rs376455983 0.5690 None gnomAD-2.1.1 2.86E-05
20664 96 N/K 132 rs376455983 0.5690 None gnomAD-3.1.2 5.26E-05
20664 96 N/K 132 rs376455983 0.5690 None gnomAD-4.0.0 2.7372E-06