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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
26386 1 L/F 1 rs1706115983 0.4728 None gnomAD-4.0.0 1.20032E-06
26388 3 G/E 3 None 0.2491 None gnomAD-4.0.0 3.60097E-06
26388 3 G/R 3 rs763822931 0.2491 None gnomAD-2.1.1 8.05E-06
26388 3 G/R 3 rs763822931 0.2491 None gnomAD-3.1.2 1.32E-05
26388 3 G/R 3 rs763822931 0.2491 None gnomAD-4.0.0 4.95833E-06
26389 4 P/L 4 rs760307077 0.3767 None gnomAD-2.1.1 8.05E-06
26389 4 P/L 4 rs760307077 0.3767 None gnomAD-4.0.0 3.18323E-06
26390 5 P/T 5 rs771933950 0.1095 None gnomAD-2.1.1 2.01E-05
26390 5 P/T 5 rs771933950 0.1095 None gnomAD-3.1.2 6.58E-06
26390 5 P/T 5 rs771933950 0.1095 None gnomAD-4.0.0 1.28157E-05
26392 7 S/T 7 None 0.5083 None gnomAD-4.0.0 6.84271E-07
26393 8 L/F 9 None 0.2325 None gnomAD-4.0.0 1.20032E-06
26393 8 L/S 9 rs745768515 0.2325 None gnomAD-4.0.0 2.7371E-06
26394 9 E/Q 11 rs144788732 0.6895 None gnomAD-3.1.2 6.58E-06
26394 9 E/Q 11 rs144788732 0.6895 None 1000 genomes 1.99681E-04
26394 9 E/Q 11 rs144788732 0.6895 None gnomAD-4.0.0 1.02504E-05
26397 12 N/D 14 rs1349397397 0.6363 None gnomAD-4.0.0 1.20032E-06
26398 13 I/T 15 rs749071678 0.2565 None gnomAD-2.1.1 8.05E-06
26398 13 I/T 15 rs749071678 0.2565 None gnomAD-4.0.0 6.84272E-07
26399 14 A/V 16 None 0.1564 None gnomAD-4.0.0 1.20032E-06
26401 16 D/N 18 None 0.4723 None gnomAD-4.0.0 6.84274E-07
26401 16 D/Y 18 rs1427205421 0.4723 None gnomAD-2.1.1 4.03E-06
26401 16 D/Y 18 rs1427205421 0.4723 None gnomAD-4.0.0 1.36855E-06
26403 18 M/I 20 rs1706091561 0.0759 None gnomAD-4.0.0 6.84282E-07
26403 18 M/K 20 rs1469438235 0.0759 None gnomAD-2.1.1 8.05E-06
26403 18 M/K 20 rs1469438235 0.0759 None gnomAD-4.0.0 4.77483E-06
26404 19 T/I 21 rs786205300 0.1753 None gnomAD-2.1.1 4.03E-06
26404 19 T/I 21 rs786205300 0.1753 None gnomAD-3.1.2 6.58E-06
26404 19 T/I 21 rs786205300 0.1753 None gnomAD-4.0.0 1.8594E-06
26404 19 T/N 21 None 0.1753 None gnomAD-2.1.1 4.03E-06
26404 19 T/N 21 None 0.1753 None gnomAD-4.0.0 1.36857E-06
26405 20 V/I 22 rs769972835 0.1082 None gnomAD-2.1.1 3.22E-05
26405 20 V/I 22 rs769972835 0.1082 None gnomAD-3.1.2 1.97E-05
26405 20 V/I 22 rs769972835 0.1082 None gnomAD-4.0.0 2.23121E-05
26406 21 C/Y 23 rs727505223 0.2167 None gnomAD-4.0.0 1.20032E-06
26407 22 W/R 24 rs1018970512 0.1066 None gnomAD-2.1.1 5.24E-05
26407 22 W/R 24 rs1018970512 0.1066 None gnomAD-3.1.2 1.24882E-04
26407 22 W/R 24 rs1018970512 0.1066 None gnomAD-4.0.0 4.10026E-05
26409 24 R/C 26 rs748258568 0.5414 None gnomAD-2.1.1 2.42E-05
26409 24 R/C 26 rs748258568 0.5414 None gnomAD-3.1.2 6.58E-06
26409 24 R/C 26 rs748258568 0.5414 None gnomAD-4.0.0 1.3636E-05
26409 24 R/H 26 rs72648206 0.5414 None gnomAD-2.1.1 5.68739E-04
26409 24 R/H 26 rs72648206 0.5414 None gnomAD-3.1.2 6.7062E-04
26409 24 R/H 26 rs72648206 0.5414 None gnomAD-4.0.0 8.57715E-04
26410 25 P/R 27 None 0.1689 None gnomAD-4.0.0 1.59173E-06
26410 25 P/S 27 None 0.1689 None gnomAD-4.0.0 1.20032E-06
26411 26 D/E 28 None 0.9444 None gnomAD-4.0.0 6.84293E-07
26411 26 D/G 28 None 0.9444 None gnomAD-4.0.0 6.84292E-07
26411 26 D/N 28 rs2154165912 0.9444 None gnomAD-4.0.0 2.40064E-06
26411 26 D/V 28 rs755457407 0.9444 None gnomAD-2.1.1 4.03E-06
26411 26 D/V 28 rs755457407 0.9444 None gnomAD-4.0.0 6.84292E-07
26412 27 S/G 29 None 0.4819 None gnomAD-4.0.0 1.36859E-06
26412 27 S/N 29 rs752040235 0.4819 None gnomAD-2.1.1 4.03E-06
26412 27 S/N 29 rs752040235 0.4819 None gnomAD-4.0.0 3.42143E-06
26413 28 D/E 30 None 0.3118 None gnomAD-4.0.0 6.8429E-07
26414 29 G/C 31 None 0.1419 None gnomAD-4.0.0 6.84291E-07
26414 29 G/D 31 rs867960496 0.1419 None gnomAD-2.1.1 8.06E-06
26414 29 G/D 31 rs867960496 0.1419 None gnomAD-3.1.2 2.63E-05
26414 29 G/D 31 rs867960496 0.1419 None gnomAD-4.0.0 8.97022E-06
26414 29 G/S 31 rs1349007720 0.1419 None gnomAD-2.1.1 4.03E-06
26414 29 G/S 31 rs1349007720 0.1419 None gnomAD-4.0.0 6.84291E-07
26415 30 G/R 32 rs1706073598 0.3540 None gnomAD-3.1.2 6.58E-06
26415 30 G/R 32 rs1706073598 0.3540 None gnomAD-4.0.0 7.68945E-06
26416 31 S/R 33 None 0.1109 None gnomAD-4.0.0 1.59176E-06
26417 32 E/D 34 rs369019463 0.7918 None gnomAD-2.1.1 2.82E-05
26417 32 E/D 34 rs369019463 0.7918 None gnomAD-3.1.2 3.29E-05
26417 32 E/D 34 rs369019463 0.7918 None gnomAD-4.0.0 8.67713E-05
26417 32 E/Q 34 None 0.7918 None gnomAD-4.0.0 2.05291E-06
26418 33 I/V 35 rs1382272786 0.1823 None gnomAD-2.1.1 4.03E-06
26418 33 I/V 35 rs1382272786 0.1823 None gnomAD-4.0.0 1.3686E-06
26420 35 G/C 37 None 0.1076 None gnomAD-4.0.0 1.59187E-06
26420 35 G/D 37 None 0.1076 None gnomAD-4.0.0 2.40065E-06
26422 37 I/L 39 rs1553590996 0.2338 None gnomAD-4.0.0 2.73732E-06
26422 37 I/T 39 rs3731745 0.2338 None gnomAD-2.1.1 2.57346E-02
26422 37 I/T 39 rs3731745 0.2338 None gnomAD-3.1.2 2.023E-02
26422 37 I/T 39 rs3731745 0.2338 None 1000 genomes 2.23642E-02
26422 37 I/T 39 rs3731745 0.2338 None gnomAD-4.0.0 2.28872E-02
26422 37 I/V 39 rs1553590996 0.2338 None gnomAD-3.1.2 1.31E-05
26422 37 I/V 39 rs1553590996 0.2338 None gnomAD-4.0.0 2.47925E-06
26423 38 V/A 40 rs576203363 0.1057 None gnomAD-2.1.1 8.07E-06
26423 38 V/A 40 rs576203363 0.1057 None gnomAD-3.1.2 6.58E-06
26423 38 V/A 40 rs576203363 0.1057 None 1000 genomes 1.99681E-04
26423 38 V/A 40 rs576203363 0.1057 None gnomAD-4.0.0 4.95833E-06
26423 38 V/G 40 None 0.1057 None gnomAD-4.0.0 6.8434E-07
26423 38 V/L 40 rs1706066147 0.1057 None gnomAD-3.1.2 1.97E-05
26423 38 V/L 40 rs1706066147 0.1057 None gnomAD-4.0.0 1.97259E-05
26424 39 E/A 41 None 0.1570 None gnomAD-4.0.0 1.59206E-06
26424 39 E/K 41 rs1706064410 0.1570 None gnomAD-3.1.2 6.57E-06
26424 39 E/K 41 rs1706064410 0.1570 None gnomAD-4.0.0 6.57471E-06
26425 40 K/E 42 rs1706063163 0.1698 None gnomAD-4.0.0 3.49016E-05
26425 40 K/I 42 rs1359744760 0.1698 None gnomAD-2.1.1 4.03E-06
26425 40 K/I 42 rs1359744760 0.1698 None gnomAD-4.0.0 2.05305E-06
26426 41 R/I 43 None 0.2245 None gnomAD-4.0.0 1.20032E-06
26427 42 D/E 44 rs766994654 0.1847 None gnomAD-2.1.1 3.22E-05
26427 42 D/E 44 rs766994654 0.1847 None gnomAD-3.1.2 1.32E-05
26427 42 D/E 44 rs766994654 0.1847 None gnomAD-4.0.0 6.84363E-07
26427 42 D/H 44 rs1157004476 0.1847 None gnomAD-3.1.2 6.57E-06
26427 42 D/H 44 rs1157004476 0.1847 None gnomAD-4.0.0 6.57462E-06
26427 42 D/N 44 rs1157004476 0.1847 None gnomAD-2.1.1 4.03E-06
26427 42 D/N 44 rs1157004476 0.1847 None gnomAD-4.0.0 1.59205E-06
26429 44 S/N 54 None 0.6551 None gnomAD-4.0.0 2.40064E-06
26429 44 S/R 54 None 0.6551 None gnomAD-4.0.0 1.59205E-06
26430 45 G/A 60 None 0.2832 None gnomAD-4.0.0 1.20033E-06
26431 46 I/F 63 None 1.1805 None gnomAD-4.0.0 2.40067E-06
26431 46 I/N 63 None 1.1805 None gnomAD-4.0.0 1.59199E-06
26432 47 R/Q 64 rs770752765 0.8046 None gnomAD-2.1.1 3.23E-05
26432 47 R/Q 64 rs770752765 0.8046 None gnomAD-3.1.2 1.32E-05
26432 47 R/Q 64 rs770752765 0.8046 None gnomAD-4.0.0 1.54964E-05
26433 48 W/R 65 None 0.2081 None gnomAD-4.0.0 1.59222E-06
26434 49 I/T 66 None 0.5530 None gnomAD-4.0.0 3.18402E-06
26436 51 C/R 68 None 0.2502 None gnomAD-4.0.0 1.20032E-06
26436 51 C/Y 68 None 0.2502 None gnomAD-4.0.0 2.7375E-06
26439 54 R/C 72 rs372968732 0.9248 None gnomAD-2.1.1 2.82E-05
26439 54 R/C 72 rs372968732 0.9248 None gnomAD-3.1.2 2.63E-05
26439 54 R/C 72 rs372968732 0.9248 None gnomAD-4.0.0 2.9755E-05
26439 54 R/H 72 rs187941835 0.9248 None gnomAD-2.1.1 1.61E-05
26439 54 R/H 72 rs187941835 0.9248 None gnomAD-3.1.2 1.32E-05
26439 54 R/H 72 rs187941835 0.9248 None 1000 genomes 1.99681E-04
26439 54 R/H 72 rs187941835 0.9248 None gnomAD-4.0.0 3.40917E-05
26440 55 R/C 75 rs55861600 0.6106 None gnomAD-2.1.1 2.51621E-03
26440 55 R/C 75 rs55861600 0.6106 None gnomAD-3.1.2 7.51355E-03
26440 55 R/C 75 rs55861600 0.6106 None 1000 genomes 6.58946E-03
26440 55 R/C 75 rs55861600 0.6106 None gnomAD-4.0.0 1.471E-03
26440 55 R/H 75 rs56044609 0.6106 None gnomAD-2.1.1 1.76438E-03
26440 55 R/H 75 rs56044609 0.6106 None gnomAD-3.1.2 5.02513E-03
26440 55 R/H 75 rs56044609 0.6106 None 1000 genomes 4.59265E-03
26440 55 R/H 75 rs56044609 0.6106 None gnomAD-4.0.0 1.05004E-03
26440 55 R/L 75 rs56044609 0.6106 None gnomAD-3.1.2 6.58E-06
26440 55 R/L 75 rs56044609 0.6106 None gnomAD-4.0.0 6.5773E-06
26441 56 I/V 77 rs1305096924 0.1794 None gnomAD-3.1.2 6.57E-06
26441 56 I/V 77 rs1305096924 0.1794 None gnomAD-4.0.0 6.57341E-06
26442 57 T/I 83 rs1288656149 0.6577 None gnomAD-2.1.1 4.03E-06
26442 57 T/I 83 rs1288656149 0.6577 None gnomAD-3.1.2 6.58E-06
26442 57 T/I 83 rs1288656149 0.6577 None gnomAD-4.0.0 2.56379E-06
26442 57 T/R 83 None 0.6577 None gnomAD-4.0.0 1.59234E-06
26445 60 R/C 90 rs780658084 0.7067 None gnomAD-2.1.1 8.06E-06
26445 60 R/C 90 rs780658084 0.7067 None gnomAD-4.0.0 7.52881E-06
26445 60 R/H 90 rs764254441 0.7067 None gnomAD-2.1.1 5.01E-05
26445 60 R/H 90 rs764254441 0.7067 None gnomAD-3.1.2 8.55E-05
26445 60 R/H 90 rs764254441 0.7067 None gnomAD-4.0.0 7.19055E-05
26445 60 R/L 90 None 0.7067 None gnomAD-4.0.0 6.84406E-07
26445 60 R/S 90 rs780658084 0.7067 None gnomAD-2.1.1 4.03E-06
26445 60 R/S 90 rs780658084 0.7067 None gnomAD-4.0.0 6.84437E-07
26446 61 L/I 91 None 0.1927 None gnomAD-4.0.0 6.84399E-07
26446 61 L/V 91 None 0.1927 None gnomAD-4.0.0 6.84399E-07
26447 62 R/G 92 None 0.5595 None gnomAD-4.0.0 1.59217E-06
26447 62 R/K 92 None 0.5595 None gnomAD-4.0.0 4.77661E-06
26448 63 V/G 93 rs1553590427 0.1456 None gnomAD-4.0.0 3.42193E-06
26448 63 V/M 93 rs1380054566 0.1456 None gnomAD-2.1.1 1.21E-05
26448 63 V/M 93 rs1380054566 0.1456 None gnomAD-3.1.2 6.57E-06
26448 63 V/M 93 rs1380054566 0.1456 None gnomAD-4.0.0 2.85135E-05
26450 65 G/R 96 rs752326213 0.4583 None gnomAD-2.1.1 4.03E-06
26450 65 G/R 96 rs752326213 0.4583 None gnomAD-3.1.2 6.57E-06
26450 65 G/R 96 rs752326213 0.4583 None gnomAD-4.0.0 5.12723E-06
26452 67 T/K 98 rs375061238 0.3952 None gnomAD-3.1.2 6.58E-06
26452 67 T/K 98 rs375061238 0.3952 None gnomAD-4.0.0 6.57618E-06
26453 68 E/D 99 rs1299909025 0.4098 None gnomAD-2.1.1 4.03E-06
26453 68 E/D 99 rs1299909025 0.4098 None gnomAD-4.0.0 1.59214E-06
26453 68 E/K 99 None 0.4098 None gnomAD-4.0.0 1.59227E-06
26453 68 E/V 99 None 0.4098 None gnomAD-4.0.0 1.59213E-06
26454 69 D/Y 100 None 0.6103 None gnomAD-4.0.0 1.59213E-06
26455 70 H/L 102 rs1706027095 0.3779 None gnomAD-4.0.0 2.05314E-06
26455 70 H/Y 102 None 0.3779 None gnomAD-4.0.0 6.84394E-07
26456 71 E/A 103 rs767070836 0.2794 None gnomAD-2.1.1 1.21E-05
26456 71 E/A 103 rs767070836 0.2794 None gnomAD-4.0.0 1.11453E-05
26456 71 E/K 103 rs1706025148 0.2794 None gnomAD-3.1.2 6.57E-06
26456 71 E/K 103 rs1706025148 0.2794 None gnomAD-4.0.0 1.5225E-05
26458 73 E/D 105 rs1162274016 0.0824 None gnomAD-2.1.1 4.03E-06
26458 73 E/D 105 rs1162274016 0.0824 None gnomAD-4.0.0 1.59216E-06
26459 74 F/C 106 None 0.1202 None gnomAD-4.0.0 2.73749E-06
26460 75 R/G 107 rs1406730761 0.1579 None gnomAD-2.1.1 4.03E-06
26460 75 R/G 107 rs1406730761 0.1579 None gnomAD-4.0.0 1.36876E-06
26460 75 R/K 107 None 0.1579 None gnomAD-4.0.0 2.40064E-06
26461 76 V/A 108 rs1351446352 0.0728 None gnomAD-2.1.1 3.19E-05
26461 76 V/A 108 rs1351446352 0.0728 None gnomAD-3.1.2 6.58E-06
26461 76 V/A 108 rs1351446352 0.0728 None gnomAD-4.0.0 6.57808E-06
26461 76 V/I 108 None 0.0728 None gnomAD-4.0.0 1.20032E-06
26462 77 S/P 109 None 0.1298 None gnomAD-4.0.0 1.20032E-06
26463 78 A/G 110 None 0.0963 None gnomAD-4.0.0 3.42197E-06
26464 79 E/A 111 rs766335027 0.2263 None gnomAD-2.1.1 4.03E-06
26464 79 E/A 111 rs766335027 0.2263 None gnomAD-4.0.0 3.18427E-06
26464 79 E/D 111 None 0.2263 None gnomAD-4.0.0 1.20032E-06
26464 79 E/G 111 rs766335027 0.2263 None gnomAD-2.1.1 8.06E-06
26464 79 E/G 111 rs766335027 0.2263 None gnomAD-4.0.0 4.7764E-06
26466 81 A/G 113 rs762829887 0.3485 None gnomAD-2.1.1 4.03E-06
26466 81 A/G 113 rs762829887 0.3485 None gnomAD-3.1.2 6.57E-06
26466 81 A/G 113 rs762829887 0.3485 None gnomAD-4.0.0 8.67826E-06
26467 82 A/S 114 rs773008593 0.3385 None gnomAD-2.1.1 1.61E-05
26467 82 A/S 114 rs773008593 0.3385 None gnomAD-4.0.0 8.8968E-06
26467 82 A/T 114 None 0.3385 None gnomAD-4.0.0 2.05311E-06
26469 84 V/A 117 None 0.4141 None gnomAD-4.0.0 1.592E-06
26469 84 V/I 117 rs540254651 0.4141 None gnomAD-3.1.2 1.31E-05
26469 84 V/I 117 rs540254651 0.4141 None 1000 genomes 1.99681E-04
26469 84 V/I 117 rs540254651 0.4141 None gnomAD-4.0.0 8.11889E-06
26471 86 E/G 119 None 0.7736 None gnomAD-4.0.0 1.59201E-06
26471 86 E/K 119 None 0.7736 None gnomAD-4.0.0 3.60099E-06
26473 88 S/G 121 None 0.1189 None gnomAD-4.0.0 1.20032E-06
26473 88 S/N 121 None 0.1189 None gnomAD-4.0.0 6.84346E-07
26474 89 P/A 122 rs761511285 0.7193 None gnomAD-2.1.1 8.06E-06
26474 89 P/A 122 rs761511285 0.7193 None gnomAD-4.0.0 1.23184E-05
26475 90 A/G 123 rs1706007740 0.3118 None gnomAD-4.0.0 1.59212E-06
26475 90 A/P 123 rs1245328296 0.3118 None gnomAD-2.1.1 4.03E-06
26475 90 A/P 123 rs1245328296 0.3118 None gnomAD-4.0.0 1.3687E-06
26476 91 T/I 124 rs1457082371 0.1681 None gnomAD-4.0.0 1.59211E-06
26476 91 T/P 124 None 0.1681 None gnomAD-4.0.0 1.20032E-06
26477 92 V/I 125 rs1706005880 0.6190 None gnomAD-4.0.0 4.10615E-06
26478 93 Y/C 126 rs1053235966 0.2600 None gnomAD-4.0.0 1.59203E-06
26478 93 Y/D 126 rs768735283 0.2600 None gnomAD-2.1.1 4.03E-06
26478 93 Y/D 126 rs768735283 0.2600 None gnomAD-4.0.0 1.59209E-06
26479 94 Y/C 127 None 0.2869 None gnomAD-4.0.0 1.59216E-06
26479 94 Y/F 127 rs747150576 0.2869 None gnomAD-2.1.1 4.03E-06
26479 94 Y/F 127 rs747150576 0.2869 None gnomAD-4.0.0 1.59216E-06
26480 95 K/N 129 None 0.3129 None gnomAD-4.0.0 2.40064E-06
26481 96 A/D 130 None 0.0673 None gnomAD-4.0.0 1.59236E-06
26481 96 A/G 130 None 0.0673 None gnomAD-4.0.0 1.59236E-06
26481 96 A/V 130 rs1320046233 0.0673 None gnomAD-2.1.1 8.06E-06
26481 96 A/V 130 rs1320046233 0.0673 None gnomAD-3.1.2 6.58E-06
26481 96 A/V 130 rs1320046233 0.0673 None gnomAD-4.0.0 3.84587E-06