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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
V P G P P K D L K V S D I T R G S C R L S W K M P D D D G G D R I K G Y V I E K R T I D G K A W T K V N P D C G S T T F V V P D L L S E Q Q Y F F R V R A E N R F G I G P P V E T I Q R T T A R D

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
18479 1 V/A 1 rs772227196 0.4760 None gnomAD-2.1.1 4.08E-06
18479 1 V/A 1 rs772227196 0.4760 None gnomAD-4.0.0 1.60353E-06
18479 1 V/I 1 rs559712998 0.4760 None gnomAD-2.1.1 1.91894E-04
18479 1 V/I 1 rs559712998 0.4760 None gnomAD-3.1.2 6.58E-05
18479 1 V/I 1 rs559712998 0.4760 None 1000 genomes 1.99681E-04
18479 1 V/I 1 rs559712998 0.4760 None gnomAD-4.0.0 4.10281E-05
18482 4 P/L 4 None 0.3895 None gnomAD-4.0.0 1.20032E-06
18483 5 P/L 5 rs1416386473 0.1142 None gnomAD-2.1.1 4.05E-06
18483 5 P/L 5 rs1416386473 0.1142 None gnomAD-4.0.0 2.05585E-06
18483 5 P/S 5 rs1394478357 0.1142 None gnomAD-3.1.2 6.58E-06
18483 5 P/S 5 rs1394478357 0.1142 None gnomAD-4.0.0 2.56966E-06
18486 8 L/P 9 rs774650474 0.1937 None gnomAD-2.1.1 4.04E-06
18486 8 L/P 9 rs774650474 0.1937 None gnomAD-4.0.0 4.78516E-06
18486 8 L/V 9 None 0.1937 None gnomAD-4.0.0 3.19056E-06
18489 11 S/I 13 rs968408582 0.2982 None gnomAD-2.1.1 4.04E-06
18489 11 S/I 13 rs968408582 0.2982 None gnomAD-4.0.0 3.18845E-06
18490 12 D/E 14 None 0.4580 None gnomAD-4.0.0 1.59384E-06
18491 13 I/T 15 None 0.2090 None gnomAD-4.0.0 3.18764E-06
18491 13 I/V 15 None 0.2090 None gnomAD-4.0.0 1.20032E-06
18494 16 G/S 18 rs368523054 0.2085 None gnomAD-2.1.1 1.21E-05
18494 16 G/S 18 rs368523054 0.2085 None gnomAD-3.1.2 6.58E-06
18494 16 G/S 18 rs368523054 0.2085 None gnomAD-4.0.0 5.13056E-06
18495 17 S/R 19 rs1213190093 0.2180 None gnomAD-2.1.1 3.19E-05
18495 17 S/R 19 rs1213190093 0.2180 None gnomAD-3.1.2 6.58E-06
18495 17 S/R 19 rs1213190093 0.2180 None gnomAD-4.0.0 6.84559E-07
18496 18 C/Y 20 rs1576287548 0.0850 None gnomAD-4.0.0 1.36914E-06
18501 23 K/N 25 None 0.5446 None gnomAD-4.0.0 6.8453E-07
18502 24 M/I 26 rs747559618 0.4178 None gnomAD-4.0.0 1.593E-06
18502 24 M/T 26 None 0.4178 None gnomAD-4.0.0 1.59296E-06
18504 26 D/G 28 rs778267361 0.8753 None gnomAD-2.1.1 4.03E-06
18504 26 D/G 28 rs778267361 0.8753 None gnomAD-4.0.0 1.59296E-06
18504 26 D/Y 28 rs1254716057 0.8753 None gnomAD-3.1.2 6.58E-06
18504 26 D/Y 28 rs1254716057 0.8753 None gnomAD-4.0.0 6.57557E-06
18505 27 D/N 29 rs563090275 0.6634 None gnomAD-2.1.1 1.79E-05
18505 27 D/N 29 rs563090275 0.6634 None gnomAD-3.1.2 1.32E-05
18505 27 D/N 29 rs563090275 0.6634 None 1000 genomes 1.99681E-04
18505 27 D/N 29 rs563090275 0.6634 None gnomAD-4.0.0 6.19969E-06
18506 28 D/N 30 rs757839460 0.2769 None gnomAD-2.1.1 3.22E-05
18506 28 D/N 30 rs757839460 0.2769 None gnomAD-3.1.2 1.32E-05
18506 28 D/N 30 rs757839460 0.2769 None gnomAD-4.0.0 1.798E-05
18507 29 G/E 31 rs794727388 0.3125 None gnomAD-3.1.2 3.29E-05
18507 29 G/E 31 rs794727388 0.3125 None gnomAD-4.0.0 4.34005E-06
18507 29 G/R 31 rs749948987 0.3125 None gnomAD-2.1.1 4.03E-06
18507 29 G/R 31 rs749948987 0.3125 None gnomAD-4.0.0 1.59295E-06
18508 30 G/E 32 None 0.5772 None gnomAD-4.0.0 3.1859E-06
18508 30 G/R 32 rs1060500511 0.5772 None gnomAD-2.1.1 4.03E-06
18508 30 G/R 32 rs1060500511 0.5772 None gnomAD-4.0.0 1.59292E-06
18509 31 D/V 33 rs765073012 0.1975 None gnomAD-2.1.1 8.05E-06
18509 31 D/V 33 rs765073012 0.1975 None gnomAD-4.0.0 4.77897E-06
18510 32 R/S 34 rs1165541106 0.7932 None gnomAD-2.1.1 4.03E-06
18510 32 R/S 34 rs1165541106 0.7932 None gnomAD-3.1.2 1.32E-05
18510 32 R/S 34 rs1165541106 0.7932 None gnomAD-4.0.0 5.58006E-06
18511 33 I/F 35 rs757290658 0.1710 None gnomAD-2.1.1 3.19E-05
18511 33 I/F 35 rs757290658 0.1710 None gnomAD-3.1.2 1.32E-05
18511 33 I/F 35 rs757290658 0.1710 None gnomAD-4.0.0 1.31563E-05
18511 33 I/S 35 rs2053434343 0.1710 None gnomAD-3.1.2 6.58E-06
18511 33 I/S 35 rs2053434343 0.1710 None gnomAD-4.0.0 6.58172E-06
18511 33 I/V 35 None 0.1710 None gnomAD-4.0.0 1.59287E-06
18512 34 K/E 36 None 0.6424 None gnomAD-4.0.0 1.20032E-06
18513 35 G/A 37 rs753550237 0.1439 None gnomAD-2.1.1 4.03E-06
18513 35 G/A 37 rs753550237 0.1439 None gnomAD-3.1.2 1.32E-05
18513 35 G/A 37 rs753550237 0.1439 None gnomAD-4.0.0 9.30046E-06
18513 35 G/D 37 None 0.1439 None gnomAD-4.0.0 2.73815E-06
18513 35 G/V 37 None 0.1439 None gnomAD-4.0.0 6.84539E-07
18514 36 Y/C 38 rs764002054 0.1219 None gnomAD-3.1.2 6.58E-06
18514 36 Y/C 38 rs764002054 0.1219 None gnomAD-4.0.0 6.5799E-06
18516 38 I/T 40 rs146608896 0.0616 None gnomAD-2.1.1 7.00686E-04
18516 38 I/T 40 rs146608896 0.0616 None gnomAD-3.1.2 2.45446E-03
18516 38 I/T 40 rs146608896 0.0616 None 1000 genomes 2.79553E-03
18516 38 I/T 40 rs146608896 0.0616 None gnomAD-4.0.0 4.2468E-04
18518 40 K/R 42 rs72646823 0.1905 None gnomAD-2.1.1 1.68023E-03
18518 40 K/R 42 rs72646823 0.1905 None gnomAD-3.1.2 2.50727E-03
18518 40 K/R 42 rs72646823 0.1905 None 1000 genomes 2.59585E-03
18518 40 K/R 42 rs72646823 0.1905 None gnomAD-4.0.0 1.08186E-03
18519 41 R/K 43 None 0.2493 None gnomAD-4.0.0 1.36906E-06
18519 41 R/T 43 None 0.2493 None gnomAD-4.0.0 6.84529E-07
18520 42 T/A 44 None 0.2465 None gnomAD-4.0.0 2.40064E-06
18520 42 T/I 44 None 0.2465 None gnomAD-4.0.0 1.20032E-06
18521 43 I/M 50 rs887160734 0.5494 None gnomAD-4.0.0 6.84541E-07
18521 43 I/T 50 rs538872534 0.5494 None gnomAD-2.1.1 1.61E-05
18521 43 I/T 50 rs538872534 0.5494 None gnomAD-3.1.2 2.63E-05
18521 43 I/T 50 rs538872534 0.5494 None 1000 genomes 1.99681E-04
18521 43 I/T 50 rs538872534 0.5494 None gnomAD-4.0.0 9.92036E-06
18521 43 I/V 50 None 0.5494 None gnomAD-4.0.0 1.5931E-06
18522 44 D/E 54 None 0.7677 None gnomAD-4.0.0 1.20032E-06
18522 44 D/V 54 rs1211576470 0.7677 None gnomAD-2.1.1 4.03E-06
18522 44 D/V 54 rs1211576470 0.7677 None gnomAD-4.0.0 1.59308E-06
18523 45 G/A 60 None 0.2468 None gnomAD-4.0.0 1.20032E-06
18523 45 G/R 60 rs1357033884 0.2468 None gnomAD-2.1.1 4.03E-06
18526 48 W/R 65 rs771337220 0.2203 None gnomAD-2.1.1 8.06E-06
18526 48 W/R 65 rs771337220 0.2203 None gnomAD-4.0.0 6.37273E-06
18527 49 T/I 66 rs1344009252 0.5526 None gnomAD-2.1.1 4.03E-06
18527 49 T/I 66 rs1344009252 0.5526 None gnomAD-4.0.0 6.8458E-06
18530 52 N/I 69 None 0.1366 None gnomAD-4.0.0 1.59334E-06
18530 52 N/S 69 rs749840185 0.1366 None gnomAD-2.1.1 4.03E-06
18530 52 N/S 69 rs749840185 0.1366 None gnomAD-4.0.0 4.78002E-06
18531 53 P/T 70 None 0.7046 None gnomAD-4.0.0 3.60097E-06
18532 54 D/G 75 None 0.9326 None gnomAD-4.0.0 2.40064E-06
18532 54 D/H 75 rs773425209 0.9326 None gnomAD-2.1.1 4.03E-06
18532 54 D/H 75 rs773425209 0.9326 None gnomAD-4.0.0 1.59336E-06
18532 54 D/N 75 rs773425209 0.9326 None gnomAD-2.1.1 1.21E-05
18532 54 D/N 75 rs773425209 0.9326 None gnomAD-3.1.2 1.97E-05
18532 54 D/N 75 rs773425209 0.9326 None gnomAD-4.0.0 5.13138E-06
18533 55 C/R 77 rs1397511003 0.1526 None gnomAD-2.1.1 3.19E-05
18533 55 C/R 77 rs1397511003 0.1526 None gnomAD-3.1.2 6.58E-06
18533 55 C/R 77 rs1397511003 0.1526 None gnomAD-4.0.0 5.58075E-06
18533 55 C/W 77 None 0.1526 None gnomAD-4.0.0 1.20032E-06
18533 55 C/Y 77 rs727503599 0.1526 None gnomAD-3.1.2 6.58E-06
18533 55 C/Y 77 rs727503599 0.1526 None gnomAD-4.0.0 6.57999E-06
18535 57 S/C 88 rs770105954 0.3752 None gnomAD-2.1.1 8.06E-06
18535 57 S/C 88 rs770105954 0.3752 None gnomAD-4.0.0 3.18668E-06
18537 59 T/A 90 None 0.3520 None gnomAD-4.0.0 1.5935E-06
18537 59 T/I 90 rs1027035888 0.3520 None gnomAD-2.1.1 4.03E-06
18537 59 T/I 90 rs1027035888 0.3520 None gnomAD-4.0.0 1.59355E-06
18538 60 F/S 91 None 0.1719 None gnomAD-4.0.0 1.59342E-06
18539 61 V/A 92 rs573082979 0.3402 None gnomAD-2.1.1 6.86E-05
18539 61 V/A 92 rs573082979 0.3402 None gnomAD-3.1.2 1.97E-05
18539 61 V/A 92 rs573082979 0.3402 None 1000 genomes 1.99681E-04
18539 61 V/A 92 rs573082979 0.3402 None gnomAD-4.0.0 2.79017E-05
18539 61 V/I 92 rs1060500557 0.3402 None gnomAD-4.0.0 1.36924E-06
18540 62 V/A 93 rs779623773 0.0962 None gnomAD-2.1.1 1.79E-05
18540 62 V/A 93 rs779623773 0.0962 None gnomAD-3.1.2 2.63E-05
18540 62 V/A 93 rs779623773 0.0962 None gnomAD-4.0.0 1.30222E-05
18540 62 V/L 93 rs2053409641 0.0962 None gnomAD-4.0.0 2.40064E-06
18541 63 P/A 94 rs749140088 0.3756 None gnomAD-4.0.0 1.20032E-06
18542 64 D/H 96 rs1391131193 0.7403 None gnomAD-2.1.1 4.04E-06
18542 64 D/H 96 rs1391131193 0.7403 None gnomAD-4.0.0 1.59372E-06
18542 64 D/Y 96 rs1391131193 0.7403 None gnomAD-2.1.1 4.04E-06
18542 64 D/Y 96 rs1391131193 0.7403 None gnomAD-3.1.2 6.58E-06
18542 64 D/Y 96 rs1391131193 0.7403 None gnomAD-4.0.0 5.13189E-06
18543 65 L/I 97 rs374878433 0.1146 None gnomAD-2.1.1 1.21E-05
18543 65 L/I 97 rs374878433 0.1146 None gnomAD-4.0.0 4.78086E-06
18543 65 L/V 97 rs374878433 0.1146 None gnomAD-2.1.1 4.04E-06
18543 65 L/V 97 rs374878433 0.1146 None gnomAD-4.0.0 6.37448E-06
18544 66 L/P 98 None 0.7160 None gnomAD-4.0.0 4.78141E-06
18544 66 L/V 98 rs924109444 0.7160 None gnomAD-3.1.2 1.97E-05
18544 66 L/V 98 rs924109444 0.7160 None gnomAD-4.0.0 1.97384E-05
18546 68 E/Q 100 None 0.5376 None gnomAD-4.0.0 1.59393E-06
18550 72 F/C 105 rs553264256 0.2729 None gnomAD-3.1.2 6.58E-06
18550 72 F/C 105 rs553264256 0.2729 None 1000 genomes 1.99681E-04
18550 72 F/C 105 rs553264256 0.2729 None gnomAD-4.0.0 6.57358E-06
18550 72 F/L 105 rs1248662230 0.2729 None gnomAD-2.1.1 4.05E-06
18550 72 F/L 105 rs1248662230 0.2729 None gnomAD-4.0.0 1.5964E-06
18551 73 F/S 106 rs370461936 0.1114 None gnomAD-4.0.0 6.38963E-06
18552 74 R/C 107 rs763966394 0.1163 None gnomAD-2.1.1 3.19E-05
18552 74 R/C 107 rs763966394 0.1163 None gnomAD-3.1.2 1.32E-05
18552 74 R/C 107 rs763966394 0.1163 None gnomAD-4.0.0 9.31205E-06
18552 74 R/H 107 rs201774108 0.1163 None gnomAD-2.1.1 1.1872E-04
18552 74 R/H 107 rs201774108 0.1163 None gnomAD-3.1.2 1.18429E-04
18552 74 R/H 107 rs201774108 0.1163 None gnomAD-4.0.0 1.31E-04
18552 74 R/P 107 rs201774108 0.1163 None gnomAD-2.1.1 3.19E-05
18552 74 R/P 107 rs201774108 0.1163 None gnomAD-3.1.2 6.58E-06
18552 74 R/P 107 rs201774108 0.1163 None gnomAD-4.0.0 1.24171E-06
18553 75 V/L 108 rs1249794224 0.0755 None gnomAD-2.1.1 4.05E-06
18553 75 V/L 108 rs1249794224 0.0755 None gnomAD-4.0.0 6.85663E-07
18553 75 V/M 108 None 0.0755 None gnomAD-4.0.0 6.85663E-07
18554 76 R/Q 109 rs202126861 0.2324 None gnomAD-2.1.1 3.6E-05
18554 76 R/Q 109 rs202126861 0.2324 None gnomAD-3.1.2 6.58E-05
18554 76 R/Q 109 rs202126861 0.2324 None 1000 genomes 1.99681E-04
18554 76 R/Q 109 rs202126861 0.2324 None gnomAD-4.0.0 2.04979E-05
18555 77 A/V 110 rs759902646 0.0920 None gnomAD-2.1.1 4.06E-06
18555 77 A/V 110 rs759902646 0.0920 None gnomAD-3.1.2 6.58E-06
18556 78 E/K 111 None 0.2747 None gnomAD-4.0.0 3.20575E-06
18558 80 R/C 113 rs774262905 0.4694 None gnomAD-2.1.1 1.22E-05
18558 80 R/C 113 rs774262905 0.4694 None gnomAD-4.0.0 1.37327E-05
18558 80 R/H 113 rs115867512 0.4694 None gnomAD-2.1.1 7.95E-05
18558 80 R/H 113 rs115867512 0.4694 None gnomAD-3.1.2 1.51314E-04
18558 80 R/H 113 rs115867512 0.4694 None 1000 genomes 1.99681E-04
18558 80 R/H 113 rs115867512 0.4694 None gnomAD-4.0.0 1.1009E-04
18559 81 F/V 114 None 0.6428 None gnomAD-4.0.0 1.60617E-06
18560 82 G/D 115 rs1334608070 0.2100 None gnomAD-4.0.0 1.60925E-06
18560 82 G/V 115 rs1334608070 0.2100 None gnomAD-4.0.0 1.60926E-06
18561 83 I/V 117 rs1327467989 0.4465 None gnomAD-2.1.1 4.09E-06
18561 83 I/V 117 rs1327467989 0.4465 None gnomAD-3.1.2 6.58E-06
18561 83 I/V 117 rs1327467989 0.4465 None gnomAD-4.0.0 6.57696E-06
18562 84 G/D 118 None 0.1387 None gnomAD-4.0.0 1.37787E-06
18563 85 P/L 119 rs1188505019 0.3525 None gnomAD-3.1.2 1.32E-05
18563 85 P/L 119 rs1188505019 0.3525 None gnomAD-4.0.0 3.12233E-06
18565 87 V/M 121 rs2053387204 0.1707 None gnomAD-3.1.2 6.58E-06
18565 87 V/M 121 rs2053387204 0.1707 None gnomAD-4.0.0 3.13507E-06
18567 89 T/S 123 rs773703444 0.1792 None gnomAD-2.1.1 4.3E-06
18567 89 T/S 123 rs773703444 0.1792 None gnomAD-4.0.0 1.65949E-06
18569 91 Q/P 125 None 0.8648 None gnomAD-4.0.0 1.20032E-06
18570 92 R/G 126 None 0.6401 None gnomAD-4.0.0 1.69102E-06
18570 92 R/K 126 rs1427580402 0.6401 None gnomAD-2.1.1 9.12E-06
18570 92 R/K 126 rs1427580402 0.6401 None gnomAD-3.1.2 6.58E-06
18570 92 R/K 126 rs1427580402 0.6401 None gnomAD-4.0.0 9.50676E-06
18571 93 T/I 127 None 0.2132 None gnomAD-4.0.0 2.1328E-06
18572 94 T/A 129 rs537445357 0.2164 None gnomAD-2.1.1 1.66E-05
18572 94 T/A 129 rs537445357 0.2164 None gnomAD-3.1.2 4.6E-05
18572 94 T/A 129 rs537445357 0.2164 None 1000 genomes 1.99681E-04
18572 94 T/A 129 rs537445357 0.2164 None gnomAD-4.0.0 1.02665E-05
18572 94 T/I 129 None 0.2164 None gnomAD-4.0.0 4.26862E-06
18573 95 A/S 130 None 0.0741 None gnomAD-4.0.0 1.75634E-06
18574 96 R/G 131 rs2053379995 0.5417 None gnomAD-4.0.0 1.23239E-05
18574 96 R/S 131 None 0.5417 None gnomAD-4.0.0 1.20032E-06
18575 97 D/Y 132 rs368524442 0.6476 None gnomAD-2.1.1 4.91E-06
18575 97 D/Y 132 rs368524442 0.6476 None gnomAD-4.0.0 1.77243E-06