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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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
20569 1 R/K 1 rs371014957 0.6386 None gnomAD-2.1.1 7.16E-06
20569 1 R/K 1 rs371014957 0.6386 None gnomAD-3.1.2 1.32E-05
20569 1 R/K 1 rs371014957 0.6386 None gnomAD-4.0.0 3.78162E-05
20570 2 P/A 2 rs769184808 0.1330 None gnomAD-2.1.1 8.06E-06
20570 2 P/A 2 rs769184808 0.1330 None gnomAD-3.1.2 6.58E-06
20570 2 P/A 2 rs769184808 0.1330 None gnomAD-4.0.0 6.81924E-06
20571 3 G/W 3 None 0.2442 None gnomAD-4.0.0 6.8446E-07
20572 4 P/A 4 None 0.4888 None gnomAD-4.0.0 7.52908E-06
20572 4 P/S 4 rs1333184630 0.4888 None gnomAD-2.1.1 4.03E-06
20572 4 P/S 4 rs1333184630 0.4888 None gnomAD-4.0.0 6.84463E-07
20572 4 P/T 4 rs1333184630 0.4888 None gnomAD-3.1.2 6.58E-06
20572 4 P/T 4 rs1333184630 0.4888 None gnomAD-4.0.0 6.57765E-06
20573 5 C/R 5 rs780691741 0.1217 None gnomAD-2.1.1 4.03E-06
20573 5 C/R 5 rs780691741 0.1217 None gnomAD-4.0.0 2.05336E-06
20574 6 Q/R 6 rs1176666570 0.3429 None gnomAD-2.1.1 4.03E-06
20575 7 N/D 7 rs779775208 0.6145 None gnomAD-2.1.1 4.03E-06
20575 7 N/D 7 rs779775208 0.6145 None gnomAD-4.0.0 1.3689E-06
20575 7 N/H 7 rs779775208 0.6145 None gnomAD-2.1.1 4.03E-06
20575 7 N/H 7 rs779775208 0.6145 None gnomAD-4.0.0 2.05336E-06
20578 10 V/L 12 None 0.3058 None gnomAD-4.0.0 1.20032E-06
20579 11 T/I 13 None 0.4983 None gnomAD-4.0.0 1.20032E-06
20580 12 N/H 14 rs2049862820 0.7557 None gnomAD-3.1.2 6.58E-06
20580 12 N/H 14 rs2049862820 0.7557 None gnomAD-4.0.0 6.57523E-06
20580 12 N/S 14 rs1470758075 0.7557 None gnomAD-2.1.1 8.06E-06
20580 12 N/S 14 rs1470758075 0.7557 None gnomAD-4.0.0 1.36893E-06
20581 13 V/A 15 rs727504849 0.3753 None gnomAD-2.1.1 4.03E-06
20581 13 V/A 15 rs727504849 0.3753 None gnomAD-3.1.2 1.32E-05
20581 13 V/A 15 rs727504849 0.3753 None gnomAD-4.0.0 2.47975E-06
20581 13 V/G 15 rs727504849 0.3753 None gnomAD-4.0.0 2.05339E-06
20581 13 V/L 15 rs1559576334 0.3753 None gnomAD-2.1.1 4.03E-06
20581 13 V/L 15 rs1559576334 0.3753 None gnomAD-4.0.0 1.59266E-06
20583 15 K/R 17 None 0.3303 None gnomAD-4.0.0 1.20032E-06
20584 16 E/K 18 None 0.4895 None gnomAD-4.0.0 2.40064E-06
20585 17 N/Y 19 rs574383177 0.2544 None gnomAD-2.1.1 4.03E-06
20585 17 N/Y 19 rs574383177 0.2544 None gnomAD-3.1.2 6.58E-06
20585 17 N/Y 19 rs574383177 0.2544 None 1000 genomes 1.99681E-04
20585 17 N/Y 19 rs574383177 0.2544 None gnomAD-4.0.0 1.85967E-06
20587 19 T/I 21 rs757267029 0.2369 None gnomAD-4.0.0 1.59262E-06
20587 19 T/K 21 None 0.2369 None gnomAD-2.1.1 4.03E-06
20587 19 T/K 21 None 0.2369 None gnomAD-4.0.0 4.77786E-06
20587 19 T/R 21 rs757267029 0.2369 None gnomAD-2.1.1 3.19E-05
20587 19 T/R 21 rs757267029 0.2369 None gnomAD-3.1.2 6.58E-06
20587 19 T/R 21 rs757267029 0.2369 None gnomAD-4.0.0 6.57704E-06
20591 23 E/K 25 rs1327237859 0.3842 None gnomAD-2.1.1 4.03E-06
20591 23 E/K 25 rs1327237859 0.3842 None gnomAD-4.0.0 1.59264E-06
20592 24 N/I 26 rs2049855196 0.5708 None gnomAD-4.0.0 1.20032E-06
20592 24 N/K 26 rs554308191 0.5708 None gnomAD-2.1.1 8.06E-06
20592 24 N/K 26 rs554308191 0.5708 None gnomAD-4.0.0 3.4223E-06
20594 26 L/P 28 None 1.2228 None gnomAD-4.0.0 2.73781E-06
20594 26 L/Q 28 None 1.2228 None gnomAD-4.0.0 6.84452E-07
20596 28 N/D 30 None 0.3276 None gnomAD-4.0.0 3.60097E-06
20597 29 G/S 31 rs767743135 0.3214 None gnomAD-2.1.1 4.03E-06
20597 29 G/S 31 rs767743135 0.3214 None gnomAD-4.0.0 1.3689E-06
20598 30 G/D 32 None 0.6336 None gnomAD-4.0.0 1.20032E-06
20598 30 G/V 32 None 0.6336 None gnomAD-4.0.0 1.20032E-06
20600 32 E/D 34 rs1337048658 0.8733 None gnomAD-2.1.1 4.02E-06
20600 32 E/D 34 rs1337048658 0.8733 None gnomAD-4.0.0 1.59248E-06
20601 33 I/L 35 None 0.2175 None gnomAD-4.0.0 1.20032E-06
20601 33 I/M 35 rs760014192 0.2175 None gnomAD-2.1.1 4.02E-06
20601 33 I/M 35 rs760014192 0.2175 None gnomAD-4.0.0 1.59243E-06
20602 34 T/I 36 rs1342930607 0.3493 None gnomAD-4.0.0 1.5924E-06
20605 37 I/M 39 rs761374262 0.2511 None gnomAD-2.1.1 1.79E-05
20605 37 I/M 39 rs761374262 0.2511 None gnomAD-3.1.2 1.97E-05
20605 37 I/M 39 rs761374262 0.2511 None gnomAD-4.0.0 2.6654E-05
20605 37 I/T 39 rs140252432 0.2511 None gnomAD-2.1.1 2.41E-05
20605 37 I/T 39 rs140252432 0.2511 None gnomAD-3.1.2 1.97E-05
20605 37 I/T 39 rs140252432 0.2511 None 1000 genomes 3.99361E-04
20605 37 I/T 39 rs140252432 0.2511 None gnomAD-4.0.0 7.69038E-06
20605 37 I/V 39 rs759096564 0.2511 None gnomAD-2.1.1 1.21E-05
20605 37 I/V 39 rs759096564 0.2511 None gnomAD-4.0.0 8.21292E-06
20607 39 E/D 41 None 0.1382 None gnomAD-4.0.0 2.0532E-06
20607 39 E/K 41 None 0.1382 None gnomAD-4.0.0 1.59233E-06
20607 39 E/Q 41 rs1396768636 0.1382 None gnomAD-4.0.0 1.59233E-06
20609 41 R/C 43 rs786205389 0.1524 None gnomAD-2.1.1 4.02E-06
20609 41 R/C 43 rs786205389 0.1524 None gnomAD-3.1.2 1.97E-05
20609 41 R/C 43 rs786205389 0.1524 None gnomAD-4.0.0 4.15323E-05
20609 41 R/H 43 rs372546292 0.1524 None gnomAD-2.1.1 2.01E-05
20609 41 R/H 43 rs372546292 0.1524 None gnomAD-3.1.2 3.95E-05
20609 41 R/H 43 rs372546292 0.1524 None gnomAD-4.0.0 1.30178E-05
20611 43 P/S 50 None 0.2834 None gnomAD-4.0.0 3.60097E-06
20613 45 Q/H 60 None 0.5017 None gnomAD-4.0.0 1.59215E-06
20613 45 Q/R 60 rs768175805 0.5017 None gnomAD-2.1.1 4.02E-06
20613 45 Q/R 60 rs768175805 0.5017 None gnomAD-3.1.2 6.57E-06
20613 45 Q/R 60 rs768175805 0.5017 None gnomAD-4.0.0 8.97201E-06
20615 47 G/A 64 rs780002348 0.3878 None gnomAD-2.1.1 2.81E-05
20615 47 G/A 64 rs780002348 0.3878 None gnomAD-3.1.2 1.97E-05
20615 47 G/A 64 rs780002348 0.3878 None gnomAD-4.0.0 1.41007E-05
20615 47 G/S 64 rs746925906 0.3878 None gnomAD-2.1.1 4.02E-06
20615 47 G/S 64 rs746925906 0.3878 None gnomAD-4.0.0 1.59213E-06
20615 47 G/V 64 None 0.3878 None gnomAD-4.0.0 1.59214E-06
20616 48 W/C 65 None 0.2549 None gnomAD-4.0.0 1.59212E-06
20617 49 S/P 66 rs1243949460 0.2355 None gnomAD-2.1.1 4.02E-06
20617 49 S/P 66 rs1243949460 0.2355 None gnomAD-3.1.2 6.58E-06
20617 49 S/P 66 rs1243949460 0.2355 None gnomAD-4.0.0 3.84534E-06
20618 50 I/T 67 rs901919886 0.5287 None gnomAD-4.0.0 2.73742E-06
20618 50 I/V 67 rs1216529341 0.5287 None gnomAD-2.1.1 8.04E-06
20618 50 I/V 67 rs1216529341 0.5287 None gnomAD-4.0.0 1.36871E-06
20619 51 V/F 68 rs1377163743 0.2624 None gnomAD-4.0.0 1.59211E-06
20619 51 V/L 68 None 0.2624 None gnomAD-4.0.0 1.59211E-06
20620 52 A/P 69 None 0.1973 None gnomAD-4.0.0 1.20033E-06
20622 54 D/E 75 None 0.7366 None gnomAD-4.0.0 1.59201E-06
20625 57 K/E 88 rs2049837055 0.8531 None gnomAD-4.0.0 1.36869E-06
20626 58 R/Q 89 rs745731267 0.4638 None gnomAD-2.1.1 8.04E-06
20626 58 R/Q 89 rs745731267 0.4638 None gnomAD-3.1.2 6.58E-06
20626 58 R/Q 89 rs745731267 0.4638 None gnomAD-4.0.0 1.05375E-05
20627 59 L/S 91 None 0.5347 None gnomAD-4.0.0 1.20032E-06
20628 60 I/V 92 rs778583635 0.2114 None gnomAD-2.1.1 4.02E-06
20628 60 I/V 92 rs778583635 0.2114 None gnomAD-4.0.0 1.59194E-06
20629 61 K/E 93 None 0.4835 None gnomAD-4.0.0 1.20032E-06
20630 62 A/D 94 None 0.1396 None gnomAD-4.0.0 6.84328E-07
20630 62 A/G 94 None 0.1396 None gnomAD-4.0.0 6.84328E-07
20630 62 A/T 94 None 0.1396 None gnomAD-4.0.0 1.59194E-06
20630 62 A/V 94 rs2154184048 0.1396 None gnomAD-4.0.0 6.84328E-07
20631 63 N/D 96 None 0.8153 None gnomAD-4.0.0 1.20032E-06
20631 63 N/K 96 rs940775890 0.8153 None gnomAD-2.1.1 4.02E-06
20631 63 N/K 96 rs940775890 0.8153 None gnomAD-4.0.0 3.42163E-06
20631 63 N/S 96 rs2049834334 0.8153 None gnomAD-4.0.0 1.59188E-06
20632 64 L/H 97 None 0.1278 None gnomAD-4.0.0 1.59184E-06
20633 65 L/S 98 rs1227248928 0.7427 None gnomAD-2.1.1 4.02E-06
20633 65 L/S 98 rs1227248928 0.7427 None gnomAD-4.0.0 6.15877E-06
20635 67 N/D 100 rs2049831678 0.7864 None gnomAD-4.0.0 1.20032E-06
20635 67 N/K 100 rs749547976 0.7864 None gnomAD-2.1.1 4.02E-06
20635 67 N/K 100 rs749547976 0.7864 None gnomAD-4.0.0 1.59184E-06
20636 68 N/S 102 rs2154184029 0.2531 None gnomAD-4.0.0 2.05294E-06
20637 69 E/V 103 None 0.3764 None gnomAD-4.0.0 1.5918E-06
20638 70 Y/H 104 rs777982609 0.0881 None gnomAD-2.1.1 4.02E-06
20638 70 Y/H 104 rs777982609 0.0881 None gnomAD-4.0.0 1.59183E-06
20639 71 Y/C 105 rs756303390 0.2119 None gnomAD-2.1.1 1.07E-05
20639 71 Y/C 105 rs756303390 0.2119 None gnomAD-3.1.2 4.6E-05
20639 71 Y/C 105 rs756303390 0.2119 None gnomAD-4.0.0 1.36356E-05
20639 71 Y/H 105 rs727503587 0.2119 None gnomAD-2.1.1 7.13E-06
20639 71 Y/H 105 rs727503587 0.2119 None gnomAD-3.1.2 2.63E-05
20639 71 Y/H 105 rs727503587 0.2119 None gnomAD-4.0.0 1.02519E-05
20641 73 R/Q 107 rs199895260 0.1404 None gnomAD-2.1.1 2.77913E-03
20641 73 R/Q 107 rs199895260 0.1404 None gnomAD-3.1.2 2.39332E-03
20641 73 R/Q 107 rs199895260 0.1404 None 1000 genomes 9.98403E-04
20641 73 R/Q 107 rs199895260 0.1404 None gnomAD-4.0.0 2.76723E-03
20642 74 V/L 108 None 0.0905 None gnomAD-4.0.0 1.59177E-06
20643 75 C/R 109 None 0.1283 None gnomAD-4.0.0 1.20032E-06
20643 75 C/S 109 None 0.1283 None gnomAD-4.0.0 6.843E-07
20643 75 C/Y 109 rs879181408 0.1283 None gnomAD-2.1.1 4.02E-06
20643 75 C/Y 109 rs879181408 0.1283 None gnomAD-3.1.2 6.57E-06
20643 75 C/Y 109 rs879181408 0.1283 None gnomAD-4.0.0 6.19783E-06
20646 78 N/D 112 rs755455461 0.1003 None gnomAD-2.1.1 4.02E-06
20646 78 N/D 112 rs755455461 0.1003 None gnomAD-4.0.0 4.77525E-06
20646 78 N/K 112 None 0.1003 None gnomAD-4.0.0 6.84303E-07
20647 79 K/Q 113 rs751883286 0.6656 None gnomAD-2.1.1 8.04E-06
20647 79 K/Q 113 rs751883286 0.6656 None gnomAD-4.0.0 1.59175E-06
20648 80 V/G 114 rs1576076651 0.6082 None gnomAD-4.0.0 1.59177E-06
20650 82 V/I 117 rs373298871 0.3863 None gnomAD-2.1.1 8.04E-06
20650 82 V/I 117 rs373298871 0.3863 None gnomAD-3.1.2 6.57E-06
20650 82 V/I 117 rs373298871 0.3863 None gnomAD-4.0.0 5.57814E-06
20651 83 G/R 118 rs1488229576 0.2004 None gnomAD-2.1.1 4.02E-06
20653 85 T/I 120 rs1553641323 0.4032 None gnomAD-4.0.0 2.73722E-06
20653 85 T/S 120 None 0.4032 None gnomAD-4.0.0 6.84304E-07
20654 86 I/T 121 rs1244996285 0.2775 None gnomAD-2.1.1 4.02E-06
20654 86 I/T 121 rs1244996285 0.2775 None gnomAD-4.0.0 1.59178E-06
20655 87 E/K 122 rs776314797 0.3366 None gnomAD-2.1.1 2.01E-05
20655 87 E/K 122 rs776314797 0.3366 None gnomAD-3.1.2 1.97E-05
20655 87 E/K 122 rs776314797 0.3366 None gnomAD-4.0.0 4.46266E-05
20656 88 T/I 123 rs1363633199 0.2301 None gnomAD-4.0.0 2.73722E-06
20656 88 T/K 123 rs1363633199 0.2301 None gnomAD-4.0.0 6.84305E-07
20659 91 P/R 126 None 0.2727 None gnomAD-4.0.0 1.59179E-06
20662 94 A/P 130 None 0.0690 None gnomAD-4.0.0 1.59175E-06
20662 94 A/V 130 rs760241038 0.0690 None gnomAD-2.1.1 4.02E-06
20662 94 A/V 130 rs760241038 0.0690 None gnomAD-4.0.0 1.59176E-06
20663 95 I/T 131 rs1297355642 0.4641 None gnomAD-2.1.1 4.02E-06
20663 95 I/T 131 rs1297355642 0.4641 None gnomAD-4.0.0 1.5917E-06
20663 95 I/V 131 None 0.4641 None gnomAD-4.0.0 6.84298E-06
20664 96 N/D 132 rs879206414 0.5026 None gnomAD-4.0.0 2.02981E-06
20664 96 N/I 132 rs1214786970 0.5026 None gnomAD-2.1.1 4.02E-06
20664 96 N/I 132 rs1214786970 0.5026 None gnomAD-3.1.2 6.58E-06
20664 96 N/I 132 rs1214786970 0.5026 None gnomAD-4.0.0 3.84458E-06
20664 96 N/K 132 rs376455983 0.5026 None gnomAD-2.1.1 2.86E-05
20664 96 N/K 132 rs376455983 0.5026 None gnomAD-3.1.2 5.26E-05
20664 96 N/K 132 rs376455983 0.5026 None gnomAD-4.0.0 2.7372E-06