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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 0.6743 None gnomAD-2.1.1 7.16E-06
20569 1 R/K 1 rs371014957 0.6743 None gnomAD-3.1.2 1.32E-05
20569 1 R/K 1 rs371014957 0.6743 None gnomAD-4.0.0 3.78162E-05
20570 2 P/A 2 rs769184808 0.1193 None gnomAD-2.1.1 8.06E-06
20570 2 P/A 2 rs769184808 0.1193 None gnomAD-3.1.2 6.58E-06
20570 2 P/A 2 rs769184808 0.1193 None gnomAD-4.0.0 6.81924E-06
20571 3 G/W 3 None 0.2284 None gnomAD-4.0.0 6.8446E-07
20572 4 P/A 4 None 0.5053 None gnomAD-4.0.0 7.52908E-06
20572 4 P/S 4 rs1333184630 0.5053 None gnomAD-2.1.1 4.03E-06
20572 4 P/S 4 rs1333184630 0.5053 None gnomAD-4.0.0 6.84463E-07
20572 4 P/T 4 rs1333184630 0.5053 None gnomAD-3.1.2 6.58E-06
20572 4 P/T 4 rs1333184630 0.5053 None gnomAD-4.0.0 6.57765E-06
20573 5 C/R 5 rs780691741 0.1173 None gnomAD-2.1.1 4.03E-06
20573 5 C/R 5 rs780691741 0.1173 None gnomAD-4.0.0 2.05336E-06
20574 6 Q/R 6 rs1176666570 0.3619 None gnomAD-2.1.1 4.03E-06
20575 7 N/D 7 rs779775208 0.5776 None gnomAD-2.1.1 4.03E-06
20575 7 N/D 7 rs779775208 0.5776 None gnomAD-4.0.0 1.3689E-06
20575 7 N/H 7 rs779775208 0.5776 None gnomAD-2.1.1 4.03E-06
20575 7 N/H 7 rs779775208 0.5776 None gnomAD-4.0.0 2.05336E-06
20578 10 V/L 12 None 0.2585 None gnomAD-4.0.0 1.20032E-06
20579 11 T/I 13 None 0.4383 None gnomAD-4.0.0 1.20032E-06
20580 12 N/H 14 rs2049862820 0.7139 None gnomAD-3.1.2 6.58E-06
20580 12 N/H 14 rs2049862820 0.7139 None gnomAD-4.0.0 6.57523E-06
20580 12 N/S 14 rs1470758075 0.7139 None gnomAD-2.1.1 8.06E-06
20580 12 N/S 14 rs1470758075 0.7139 None gnomAD-4.0.0 1.36893E-06
20581 13 V/A 15 rs727504849 0.2261 None gnomAD-2.1.1 4.03E-06
20581 13 V/A 15 rs727504849 0.2261 None gnomAD-3.1.2 1.32E-05
20581 13 V/A 15 rs727504849 0.2261 None gnomAD-4.0.0 2.47975E-06
20581 13 V/G 15 rs727504849 0.2261 None gnomAD-4.0.0 2.05339E-06
20581 13 V/L 15 rs1559576334 0.2261 None gnomAD-2.1.1 4.03E-06
20581 13 V/L 15 rs1559576334 0.2261 None gnomAD-4.0.0 1.59266E-06
20583 15 K/R 17 None 0.4152 None gnomAD-4.0.0 1.20032E-06
20584 16 E/K 18 None 0.5511 None gnomAD-4.0.0 2.40064E-06
20585 17 N/Y 19 rs574383177 0.2383 None gnomAD-2.1.1 4.03E-06
20585 17 N/Y 19 rs574383177 0.2383 None gnomAD-3.1.2 6.58E-06
20585 17 N/Y 19 rs574383177 0.2383 None 1000 genomes 1.99681E-04
20585 17 N/Y 19 rs574383177 0.2383 None gnomAD-4.0.0 1.85967E-06
20587 19 T/I 21 rs757267029 0.2162 None gnomAD-4.0.0 1.59262E-06
20587 19 T/K 21 None 0.2162 None gnomAD-2.1.1 4.03E-06
20587 19 T/K 21 None 0.2162 None gnomAD-4.0.0 4.77786E-06
20587 19 T/R 21 rs757267029 0.2162 None gnomAD-2.1.1 3.19E-05
20587 19 T/R 21 rs757267029 0.2162 None gnomAD-3.1.2 6.58E-06
20587 19 T/R 21 rs757267029 0.2162 None gnomAD-4.0.0 6.57704E-06
20591 23 E/K 25 rs1327237859 0.4092 None gnomAD-2.1.1 4.03E-06
20591 23 E/K 25 rs1327237859 0.4092 None gnomAD-4.0.0 1.59264E-06
20592 24 N/I 26 rs2049855196 0.5199 None gnomAD-4.0.0 1.20032E-06
20592 24 N/K 26 rs554308191 0.5199 None gnomAD-2.1.1 8.06E-06
20592 24 N/K 26 rs554308191 0.5199 None gnomAD-4.0.0 3.4223E-06
20594 26 L/P 28 None 1.0749 None gnomAD-4.0.0 2.73781E-06
20594 26 L/Q 28 None 1.0749 None gnomAD-4.0.0 6.84452E-07
20596 28 N/D 30 None 0.3302 None gnomAD-4.0.0 3.60097E-06
20597 29 G/S 31 rs767743135 0.2939 None gnomAD-2.1.1 4.03E-06
20597 29 G/S 31 rs767743135 0.2939 None gnomAD-4.0.0 1.3689E-06
20598 30 G/D 32 None 0.6358 None gnomAD-4.0.0 1.20032E-06
20598 30 G/V 32 None 0.6358 None gnomAD-4.0.0 1.20032E-06
20600 32 E/D 34 rs1337048658 0.8678 None gnomAD-2.1.1 4.02E-06
20600 32 E/D 34 rs1337048658 0.8678 None gnomAD-4.0.0 1.59248E-06
20601 33 I/L 35 None 0.1995 None gnomAD-4.0.0 1.20032E-06
20601 33 I/M 35 rs760014192 0.1995 None gnomAD-2.1.1 4.02E-06
20601 33 I/M 35 rs760014192 0.1995 None gnomAD-4.0.0 1.59243E-06
20602 34 T/I 36 rs1342930607 0.3718 None gnomAD-4.0.0 1.5924E-06
20605 37 I/M 39 rs761374262 0.2448 None gnomAD-2.1.1 1.79E-05
20605 37 I/M 39 rs761374262 0.2448 None gnomAD-3.1.2 1.97E-05
20605 37 I/M 39 rs761374262 0.2448 None gnomAD-4.0.0 2.6654E-05
20605 37 I/T 39 rs140252432 0.2448 None gnomAD-2.1.1 2.41E-05
20605 37 I/T 39 rs140252432 0.2448 None gnomAD-3.1.2 1.97E-05
20605 37 I/T 39 rs140252432 0.2448 None 1000 genomes 3.99361E-04
20605 37 I/T 39 rs140252432 0.2448 None gnomAD-4.0.0 7.69038E-06
20605 37 I/V 39 rs759096564 0.2448 None gnomAD-2.1.1 1.21E-05
20605 37 I/V 39 rs759096564 0.2448 None gnomAD-4.0.0 8.21292E-06
20607 39 E/D 41 None 0.1380 None gnomAD-4.0.0 2.0532E-06
20607 39 E/K 41 None 0.1380 None gnomAD-4.0.0 1.59233E-06
20607 39 E/Q 41 rs1396768636 0.1380 None gnomAD-4.0.0 1.59233E-06
20609 41 R/C 43 rs786205389 0.1769 None gnomAD-2.1.1 4.02E-06
20609 41 R/C 43 rs786205389 0.1769 None gnomAD-3.1.2 1.97E-05
20609 41 R/C 43 rs786205389 0.1769 None gnomAD-4.0.0 4.15323E-05
20609 41 R/H 43 rs372546292 0.1769 None gnomAD-2.1.1 2.01E-05
20609 41 R/H 43 rs372546292 0.1769 None gnomAD-3.1.2 3.95E-05
20609 41 R/H 43 rs372546292 0.1769 None gnomAD-4.0.0 1.30178E-05
20611 43 P/S 50 None 0.3064 None gnomAD-4.0.0 3.60097E-06
20613 45 Q/H 60 None 0.3693 None gnomAD-4.0.0 1.59215E-06
20613 45 Q/R 60 rs768175805 0.3693 None gnomAD-2.1.1 4.02E-06
20613 45 Q/R 60 rs768175805 0.3693 None gnomAD-3.1.2 6.57E-06
20613 45 Q/R 60 rs768175805 0.3693 None gnomAD-4.0.0 8.97201E-06
20615 47 G/A 64 rs780002348 0.3636 None gnomAD-2.1.1 2.81E-05
20615 47 G/A 64 rs780002348 0.3636 None gnomAD-3.1.2 1.97E-05
20615 47 G/A 64 rs780002348 0.3636 None gnomAD-4.0.0 1.41007E-05
20615 47 G/S 64 rs746925906 0.3636 None gnomAD-2.1.1 4.02E-06
20615 47 G/S 64 rs746925906 0.3636 None gnomAD-4.0.0 1.59213E-06
20615 47 G/V 64 None 0.3636 None gnomAD-4.0.0 1.59214E-06
20616 48 W/C 65 None 0.2575 None gnomAD-4.0.0 1.59212E-06
20617 49 S/P 66 rs1243949460 0.2252 None gnomAD-2.1.1 4.02E-06
20617 49 S/P 66 rs1243949460 0.2252 None gnomAD-3.1.2 6.58E-06
20617 49 S/P 66 rs1243949460 0.2252 None gnomAD-4.0.0 3.84534E-06
20618 50 I/T 67 rs901919886 0.5477 None gnomAD-4.0.0 2.73742E-06
20618 50 I/V 67 rs1216529341 0.5477 None gnomAD-2.1.1 8.04E-06
20618 50 I/V 67 rs1216529341 0.5477 None gnomAD-4.0.0 1.36871E-06
20619 51 V/F 68 rs1377163743 0.2647 None gnomAD-4.0.0 1.59211E-06
20619 51 V/L 68 None 0.2647 None gnomAD-4.0.0 1.59211E-06
20620 52 A/P 69 None 0.1921 None gnomAD-4.0.0 1.20033E-06
20622 54 D/E 75 None 0.7576 None gnomAD-4.0.0 1.59201E-06
20625 57 K/E 88 rs2049837055 0.8368 None gnomAD-4.0.0 1.36869E-06
20626 58 R/Q 89 rs745731267 0.4603 None gnomAD-2.1.1 8.04E-06
20626 58 R/Q 89 rs745731267 0.4603 None gnomAD-3.1.2 6.58E-06
20626 58 R/Q 89 rs745731267 0.4603 None gnomAD-4.0.0 1.05375E-05
20627 59 L/S 91 None 0.5352 None gnomAD-4.0.0 1.20032E-06
20628 60 I/V 92 rs778583635 0.1896 None gnomAD-2.1.1 4.02E-06
20628 60 I/V 92 rs778583635 0.1896 None gnomAD-4.0.0 1.59194E-06
20629 61 K/E 93 None 0.5421 None gnomAD-4.0.0 1.20032E-06
20630 62 A/D 94 None 0.1317 None gnomAD-4.0.0 6.84328E-07
20630 62 A/G 94 None 0.1317 None gnomAD-4.0.0 6.84328E-07
20630 62 A/T 94 None 0.1317 None gnomAD-4.0.0 1.59194E-06
20630 62 A/V 94 rs2154184048 0.1317 None gnomAD-4.0.0 6.84328E-07
20631 63 N/D 96 None 0.8268 None gnomAD-4.0.0 1.20032E-06
20631 63 N/K 96 rs940775890 0.8268 None gnomAD-2.1.1 4.02E-06
20631 63 N/K 96 rs940775890 0.8268 None gnomAD-4.0.0 3.42163E-06
20631 63 N/S 96 rs2049834334 0.8268 None gnomAD-4.0.0 1.59188E-06
20632 64 L/H 97 None 0.1238 None gnomAD-4.0.0 1.59184E-06
20633 65 L/S 98 rs1227248928 0.7296 None gnomAD-2.1.1 4.02E-06
20633 65 L/S 98 rs1227248928 0.7296 None gnomAD-4.0.0 6.15877E-06
20635 67 N/D 100 rs2049831678 0.8316 None gnomAD-4.0.0 1.20032E-06
20635 67 N/K 100 rs749547976 0.8316 None gnomAD-2.1.1 4.02E-06
20635 67 N/K 100 rs749547976 0.8316 None gnomAD-4.0.0 1.59184E-06
20636 68 N/S 102 rs2154184029 0.2666 None gnomAD-4.0.0 2.05294E-06
20637 69 E/V 103 None 0.3839 None gnomAD-4.0.0 1.5918E-06
20638 70 Y/H 104 rs777982609 0.0860 None gnomAD-2.1.1 4.02E-06
20638 70 Y/H 104 rs777982609 0.0860 None gnomAD-4.0.0 1.59183E-06
20639 71 Y/C 105 rs756303390 0.2229 None gnomAD-2.1.1 1.07E-05
20639 71 Y/C 105 rs756303390 0.2229 None gnomAD-3.1.2 4.6E-05
20639 71 Y/C 105 rs756303390 0.2229 None gnomAD-4.0.0 1.36356E-05
20639 71 Y/H 105 rs727503587 0.2229 None gnomAD-2.1.1 7.13E-06
20639 71 Y/H 105 rs727503587 0.2229 None gnomAD-3.1.2 2.63E-05
20639 71 Y/H 105 rs727503587 0.2229 None gnomAD-4.0.0 1.02519E-05
20641 73 R/Q 107 rs199895260 0.1369 None gnomAD-2.1.1 2.77913E-03
20641 73 R/Q 107 rs199895260 0.1369 None gnomAD-3.1.2 2.39332E-03
20641 73 R/Q 107 rs199895260 0.1369 None 1000 genomes 9.98403E-04
20641 73 R/Q 107 rs199895260 0.1369 None gnomAD-4.0.0 2.76723E-03
20642 74 V/L 108 None 0.0842 None gnomAD-4.0.0 1.59177E-06
20643 75 C/R 109 None 0.1273 None gnomAD-4.0.0 1.20032E-06
20643 75 C/S 109 None 0.1273 None gnomAD-4.0.0 6.843E-07
20643 75 C/Y 109 rs879181408 0.1273 None gnomAD-2.1.1 4.02E-06
20643 75 C/Y 109 rs879181408 0.1273 None gnomAD-3.1.2 6.57E-06
20643 75 C/Y 109 rs879181408 0.1273 None gnomAD-4.0.0 6.19783E-06
20646 78 N/D 112 rs755455461 0.0988 None gnomAD-2.1.1 4.02E-06
20646 78 N/D 112 rs755455461 0.0988 None gnomAD-4.0.0 4.77525E-06
20646 78 N/K 112 None 0.0988 None gnomAD-4.0.0 6.84303E-07
20647 79 K/Q 113 rs751883286 0.6611 None gnomAD-2.1.1 8.04E-06
20647 79 K/Q 113 rs751883286 0.6611 None gnomAD-4.0.0 1.59175E-06
20648 80 V/G 114 rs1576076651 0.6050 None gnomAD-4.0.0 1.59177E-06
20650 82 V/I 117 rs373298871 0.3822 None gnomAD-2.1.1 8.04E-06
20650 82 V/I 117 rs373298871 0.3822 None gnomAD-3.1.2 6.57E-06
20650 82 V/I 117 rs373298871 0.3822 None gnomAD-4.0.0 5.57814E-06
20651 83 G/R 118 rs1488229576 0.1874 None gnomAD-2.1.1 4.02E-06
20653 85 T/I 120 rs1553641323 0.3865 None gnomAD-4.0.0 2.73722E-06
20653 85 T/S 120 None 0.3865 None gnomAD-4.0.0 6.84304E-07
20654 86 I/T 121 rs1244996285 0.2425 None gnomAD-2.1.1 4.02E-06
20654 86 I/T 121 rs1244996285 0.2425 None gnomAD-4.0.0 1.59178E-06
20655 87 E/K 122 rs776314797 0.3408 None gnomAD-2.1.1 2.01E-05
20655 87 E/K 122 rs776314797 0.3408 None gnomAD-3.1.2 1.97E-05
20655 87 E/K 122 rs776314797 0.3408 None gnomAD-4.0.0 4.46266E-05
20656 88 T/I 123 rs1363633199 0.2128 None gnomAD-4.0.0 2.73722E-06
20656 88 T/K 123 rs1363633199 0.2128 None gnomAD-4.0.0 6.84305E-07
20659 91 P/R 126 None 0.2734 None gnomAD-4.0.0 1.59179E-06
20662 94 A/P 130 None 0.0680 None gnomAD-4.0.0 1.59175E-06
20662 94 A/V 130 rs760241038 0.0680 None gnomAD-2.1.1 4.02E-06
20662 94 A/V 130 rs760241038 0.0680 None gnomAD-4.0.0 1.59176E-06
20663 95 I/T 131 rs1297355642 0.3160 None gnomAD-2.1.1 4.02E-06
20663 95 I/T 131 rs1297355642 0.3160 None gnomAD-4.0.0 1.5917E-06
20663 95 I/V 131 None 0.3160 None gnomAD-4.0.0 6.84298E-06
20664 96 N/D 132 rs879206414 0.4362 None gnomAD-4.0.0 2.02981E-06
20664 96 N/I 132 rs1214786970 0.4362 None gnomAD-2.1.1 4.02E-06
20664 96 N/I 132 rs1214786970 0.4362 None gnomAD-3.1.2 6.58E-06
20664 96 N/I 132 rs1214786970 0.4362 None gnomAD-4.0.0 3.84458E-06
20664 96 N/K 132 rs376455983 0.4362 None gnomAD-2.1.1 2.86E-05
20664 96 N/K 132 rs376455983 0.4362 None gnomAD-3.1.2 5.26E-05
20664 96 N/K 132 rs376455983 0.4362 None gnomAD-4.0.0 2.7372E-06