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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
23040 1 V/I 1 None 0.5089 None gnomAD-4.0.0 1.36897E-06
23040 1 V/L 1 rs2046630648 0.5089 None gnomAD-3.1.2 6.59E-06
23040 1 V/L 1 rs2046630648 0.5089 None gnomAD-4.0.0 1.86014E-06
23041 2 P/R 2 rs1174533300 0.1281 None gnomAD-4.0.0 1.20032E-06
23042 3 G/D 3 rs531136835 0.2549 None gnomAD-2.1.1 4.04E-06
23042 3 G/D 3 rs531136835 0.2549 None gnomAD-3.1.2 6.59E-06
23042 3 G/D 3 rs531136835 0.2549 None 1000 genomes 1.99681E-04
23042 3 G/D 3 rs531136835 0.2549 None gnomAD-4.0.0 6.58432E-06
23042 3 G/S 3 None 0.2549 None gnomAD-4.0.0 1.59283E-06
23042 3 G/V 3 rs531136835 0.2549 None gnomAD-3.1.2 6.59E-06
23042 3 G/V 3 rs531136835 0.2549 None gnomAD-4.0.0 3.04609E-06
23043 4 P/A 4 rs1251404237 0.4684 None gnomAD-2.1.1 4.04E-06
23043 4 P/A 4 rs1251404237 0.4684 None gnomAD-4.0.0 6.84516E-07
23043 4 P/L 4 rs773833922 0.4684 None gnomAD-2.1.1 8.08E-06
23043 4 P/L 4 rs773833922 0.4684 None gnomAD-4.0.0 4.77844E-06
23043 4 P/S 4 rs1251404237 0.4684 None gnomAD-2.1.1 4.04E-06
23043 4 P/S 4 rs1251404237 0.4684 None gnomAD-4.0.0 1.36903E-06
23044 5 P/S 5 rs55980498 0.1508 None gnomAD-2.1.1 3.64249E-03
23044 5 P/S 5 rs55980498 0.1508 None gnomAD-3.1.2 3.61627E-03
23044 5 P/S 5 rs55980498 0.1508 None 1000 genomes 9.98403E-04
23044 5 P/S 5 rs55980498 0.1508 None gnomAD-4.0.0 5.1505E-03
23045 6 G/S 6 rs762347167 0.2332 None gnomAD-2.1.1 4.04E-06
23045 6 G/S 6 rs762347167 0.2332 None gnomAD-3.1.2 6.58E-06
23045 6 G/S 6 rs762347167 0.2332 None gnomAD-4.0.0 2.56508E-06
23047 8 V/A 9 rs368697152 0.1747 None gnomAD-2.1.1 5.02E-05
23047 8 V/A 9 rs368697152 0.1747 None gnomAD-3.1.2 2.04023E-04
23047 8 V/A 9 rs368697152 0.1747 None gnomAD-4.0.0 4.58808E-05
23047 8 V/F 9 None 0.1747 None gnomAD-4.0.0 6.84505E-07
23047 8 V/I 9 rs2154173593 0.1747 None gnomAD-4.0.0 6.84505E-07
23049 10 I/T 12 None 0.3051 None gnomAD-4.0.0 4.77841E-06
23049 10 I/V 12 rs72646881 0.3051 None gnomAD-2.1.1 1.11649E-02
23049 10 I/V 12 rs72646881 0.3051 None gnomAD-3.1.2 3.27723E-02
23049 10 I/V 12 rs72646881 0.3051 None 1000 genomes 3.63419E-02
23049 10 I/V 12 rs72646881 0.3051 None gnomAD-4.0.0 6.56266E-03
23050 11 S/C 13 rs1236505151 0.3268 None gnomAD-2.1.1 2.83E-05
23050 11 S/C 13 rs1236505151 0.3268 None gnomAD-3.1.2 9.21E-05
23050 11 S/C 13 rs1236505151 0.3268 None gnomAD-4.0.0 2.69292E-05
23050 11 S/R 13 rs1318329197 0.3268 None gnomAD-2.1.1 4.04E-06
23051 12 N/H 14 None 0.6878 None gnomAD-4.0.0 1.59281E-06
23051 12 N/T 14 None 0.6878 None gnomAD-4.0.0 3.1856E-06
23052 13 V/A 15 None 0.2960 None gnomAD-4.0.0 1.20032E-06
23055 16 E/A 18 rs2046618372 0.6977 None gnomAD-3.1.2 6.58E-06
23055 16 E/A 18 rs2046618372 0.6977 None gnomAD-4.0.0 6.57851E-06
23058 19 T/A 21 rs752304059 0.1821 None gnomAD-2.1.1 4.03E-06
23058 19 T/A 21 rs752304059 0.1821 None gnomAD-3.1.2 6.58E-06
23058 19 T/A 21 rs752304059 0.1821 None gnomAD-4.0.0 2.48005E-06
23058 19 T/I 21 None 0.1821 None gnomAD-4.0.0 3.21706E-05
23058 19 T/S 21 rs752304059 0.1821 None gnomAD-2.1.1 4.03E-06
23058 19 T/S 21 rs752304059 0.1821 None gnomAD-4.0.0 1.30193E-05
23059 20 L/F 22 rs1394979272 0.1077 None gnomAD-2.1.1 4.03E-06
23059 20 L/F 22 rs1394979272 0.1077 None gnomAD-3.1.2 6.58E-06
23059 20 L/F 22 rs1394979272 0.1077 None gnomAD-4.0.0 2.56464E-06
23061 22 W/C 24 None 0.1381 None gnomAD-4.0.0 2.05337E-06
23061 22 W/R 24 None 0.1381 None gnomAD-4.0.0 1.59258E-06
23063 24 P/S 26 None 0.4880 None gnomAD-4.0.0 1.20032E-06
23065 26 L/S 28 rs768535148 1.2689 None gnomAD-2.1.1 8.95E-05
23065 26 L/S 28 rs768535148 1.2689 None gnomAD-3.1.2 4.61E-05
23065 26 L/S 28 rs768535148 1.2689 None gnomAD-4.0.0 5.26964E-05
23067 28 D/N 30 None 0.2873 None gnomAD-4.0.0 6.84413E-07
23067 28 D/Y 30 rs794729485 0.2873 None gnomAD-3.1.2 6.58E-06
23067 28 D/Y 30 rs794729485 0.2873 None gnomAD-4.0.0 5.5794E-06
23068 29 G/D 31 rs528841156 0.3573 None gnomAD-2.1.1 1.21E-05
23068 29 G/D 31 rs528841156 0.3573 None gnomAD-4.0.0 4.77716E-06
23068 29 G/S 31 None 0.3573 None gnomAD-4.0.0 1.20032E-06
23068 29 G/V 31 rs528841156 0.3573 None gnomAD-2.1.1 8.06E-06
23068 29 G/V 31 rs528841156 0.3573 None gnomAD-3.1.2 6.58E-06
23068 29 G/V 31 rs528841156 0.3573 None 1000 genomes 1.99681E-04
23068 29 G/V 31 rs528841156 0.3573 None gnomAD-4.0.0 2.56411E-06
23069 30 G/S 32 rs183977969 0.5625 None gnomAD-2.1.1 4.84E-05
23069 30 G/S 32 rs183977969 0.5625 None gnomAD-3.1.2 3.29E-05
23069 30 G/S 32 rs183977969 0.5625 None 1000 genomes 1.99681E-04
23069 30 G/S 32 rs183977969 0.5625 None gnomAD-4.0.0 2.16979E-05
23070 31 S/L 33 None 0.1618 None gnomAD-4.0.0 1.59235E-06
23070 31 S/P 33 None 0.1618 None gnomAD-4.0.0 3.18467E-06
23071 32 P/L 34 rs367664195 0.6827 None gnomAD-2.1.1 4.03E-06
23071 32 P/S 34 None 0.6827 None gnomAD-4.0.0 1.36879E-06
23072 33 I/M 35 rs374117511 0.2432 None gnomAD-2.1.1 5.24E-05
23072 33 I/M 35 rs374117511 0.2432 None gnomAD-3.1.2 1.32E-05
23072 33 I/M 35 rs374117511 0.2432 None gnomAD-4.0.0 3.46172E-05
23072 33 I/N 35 rs1309205725 0.2432 None gnomAD-2.1.1 3.19E-05
23072 33 I/N 35 rs1309205725 0.2432 None gnomAD-3.1.2 1.32E-05
23072 33 I/N 35 rs1309205725 0.2432 None gnomAD-4.0.0 7.43903E-06
23072 33 I/V 35 rs2046609808 0.2432 None gnomAD-4.0.0 3.18451E-06
23074 35 S/Y 37 rs1485952946 0.1160 None gnomAD-2.1.1 4.03E-06
23074 35 S/Y 37 rs1485952946 0.1160 None gnomAD-4.0.0 1.36878E-06
23075 36 Y/S 38 None 0.1270 None gnomAD-4.0.0 1.20032E-06
23076 37 I/M 39 None 0.2242 None gnomAD-4.0.0 1.36875E-06
23076 37 I/T 39 rs765930349 0.2242 None gnomAD-2.1.1 2.42E-05
23076 37 I/T 39 rs765930349 0.2242 None gnomAD-3.1.2 1.97E-05
23076 37 I/T 39 rs765930349 0.2242 None gnomAD-4.0.0 1.30178E-05
23076 37 I/V 39 rs1203126727 0.2242 None gnomAD-2.1.1 8.06E-06
23076 37 I/V 39 rs1203126727 0.2242 None gnomAD-4.0.0 8.21248E-06
23077 38 L/F 40 rs529270980 0.0966 None gnomAD-2.1.1 1.07E-05
23077 38 L/F 40 rs529270980 0.0966 None gnomAD-3.1.2 2.63E-05
23077 38 L/F 40 rs529270980 0.0966 None 1000 genomes 1.99681E-04
23077 38 L/F 40 rs529270980 0.0966 None gnomAD-4.0.0 1.05378E-05
23077 38 L/I 40 None 0.0966 None gnomAD-4.0.0 6.84378E-07
23077 38 L/P 40 rs772742230 0.0966 None gnomAD-2.1.1 4.03E-06
23077 38 L/P 40 rs772742230 0.0966 None gnomAD-4.0.0 1.59217E-06
23078 39 E/G 41 rs761442590 0.1232 None gnomAD-2.1.1 8.06E-06
23078 39 E/G 41 rs761442590 0.1232 None gnomAD-3.1.2 1.32E-05
23078 39 E/G 41 rs761442590 0.1232 None gnomAD-4.0.0 5.12786E-06
23079 40 K/E 42 None 0.1943 None gnomAD-4.0.0 1.59212E-06
23079 40 K/N 42 rs1234500748 0.1943 None gnomAD-2.1.1 4.03E-06
23079 40 K/N 42 rs1234500748 0.1943 None gnomAD-4.0.0 1.5921E-06
23079 40 K/T 42 None 0.1943 None gnomAD-4.0.0 1.20032E-06
23080 41 R/K 43 rs949990037 0.2093 None gnomAD-2.1.1 4.03E-06
23080 41 R/K 43 rs949990037 0.2093 None gnomAD-4.0.0 1.59216E-06
23082 43 T/I 50 None 0.3218 None gnomAD-4.0.0 1.20032E-06
23084 45 R/Q 60 rs200191748 0.5151 None gnomAD-2.1.1 3.22E-05
23084 45 R/Q 60 rs200191748 0.5151 None gnomAD-3.1.2 6.58E-05
23084 45 R/Q 60 rs200191748 0.5151 None gnomAD-4.0.0 2.60362E-05
23087 48 W/R 65 rs1293167512 0.2274 None gnomAD-2.1.1 4.03E-06
23090 51 V/F 68 rs377487375 0.2754 None gnomAD-2.1.1 4.03E-06
23090 51 V/F 68 rs377487375 0.2754 None gnomAD-4.0.0 3.42171E-06
23090 51 V/I 68 None 0.2754 None gnomAD-4.0.0 1.36869E-06
23090 51 V/L 68 rs377487375 0.2754 None gnomAD-3.1.2 6.58E-06
23090 51 V/L 68 rs377487375 0.2754 None gnomAD-4.0.0 6.58025E-06
23091 52 S/F 69 None 0.2361 None gnomAD-4.0.0 1.59195E-06
23093 54 D/G 75 None 0.6870 None gnomAD-4.0.0 4.80129E-06
23093 54 D/N 75 None 0.6870 None gnomAD-4.0.0 3.60097E-06
23093 54 D/V 75 None 0.6870 None gnomAD-4.0.0 1.20032E-06
23094 55 I/T 77 rs1462335969 0.1019 None gnomAD-3.1.2 1.32E-05
23094 55 I/T 77 rs1462335969 0.1019 None gnomAD-4.0.0 4.95875E-06
23095 56 Q/H 83 None 0.9060 None gnomAD-4.0.0 1.20032E-06
23096 57 S/F 88 rs775422985 0.4491 None gnomAD-2.1.1 2.42E-05
23096 57 S/F 88 rs775422985 0.4491 None gnomAD-3.1.2 6.58E-06
23096 57 S/F 88 rs775422985 0.4491 None gnomAD-4.0.0 1.61145E-05
23096 57 S/P 88 None 0.4491 None gnomAD-4.0.0 1.20032E-06
23097 58 C/G 89 rs1165725715 0.1200 None gnomAD-2.1.1 4.03E-06
23097 58 C/G 89 rs1165725715 0.1200 None gnomAD-3.1.2 6.58E-06
23097 58 C/G 89 rs1165725715 0.1200 None gnomAD-4.0.0 3.7189E-06
23097 58 C/R 89 rs1165725715 0.1200 None gnomAD-3.1.2 1.97E-05
23097 58 C/R 89 rs1165725715 0.1200 None gnomAD-4.0.0 1.61152E-05
23098 59 R/K 90 rs771768640 0.5073 None gnomAD-2.1.1 1.07E-05
23098 59 R/K 90 rs771768640 0.5073 None gnomAD-3.1.2 1.32E-05
23098 59 R/K 90 rs771768640 0.5073 None gnomAD-4.0.0 3.71908E-06
23100 61 V/A 92 None 0.4051 None gnomAD-4.0.0 1.20032E-06
23101 62 A/V 93 None 0.1301 None gnomAD-4.0.0 1.59188E-06
23102 63 T/S 94 rs1372466257 0.4798 None gnomAD-2.1.1 8.06E-06
23102 63 T/S 94 rs1372466257 0.4798 None gnomAD-4.0.0 1.59186E-06
23103 64 K/R 96 None 0.9156 None gnomAD-4.0.0 1.59186E-06
23104 65 L/F 97 rs746045754 0.1237 None gnomAD-2.1.1 4.03E-06
23104 65 L/F 97 rs746045754 0.1237 None gnomAD-4.0.0 1.59189E-06
23104 65 L/R 97 None 0.1237 None gnomAD-4.0.0 1.36864E-06
23105 66 I/T 98 rs1430095779 0.4679 None gnomAD-2.1.1 4.03E-06
23107 68 G/A 100 rs2046587390 0.3052 None gnomAD-4.0.0 4.77561E-06
23108 69 N/K 102 rs147525123 0.2848 None gnomAD-2.1.1 4.03E-06
23108 69 N/K 102 rs147525123 0.2848 None gnomAD-4.0.0 6.84321E-07
23109 70 E/A 103 rs1212757037 0.3111 None gnomAD-2.1.1 4.03E-06
23109 70 E/A 103 rs1212757037 0.3111 None gnomAD-4.0.0 1.36865E-06
23109 70 E/D 103 None 0.3111 None gnomAD-4.0.0 1.59189E-06
23109 70 E/K 103 rs727503571 0.3111 None gnomAD-3.1.2 1.32E-05
23109 70 E/K 103 rs727503571 0.3111 None gnomAD-4.0.0 3.04523E-06
23111 72 I/V 105 rs1398776954 0.1551 None gnomAD-2.1.1 3.19E-05
23111 72 I/V 105 rs1398776954 0.1551 None gnomAD-4.0.0 5.47461E-06
23112 73 F/C 106 rs1379413245 0.1279 None gnomAD-2.1.1 6.37E-05
23112 73 F/C 106 rs1379413245 0.1279 None gnomAD-3.1.2 1.97E-05
23112 73 F/C 106 rs1379413245 0.1279 None gnomAD-4.0.0 1.48758E-05
23113 74 R/Q 107 rs370890454 0.1478 None gnomAD-2.1.1 8.59E-05
23113 74 R/Q 107 rs370890454 0.1478 None gnomAD-3.1.2 1.18395E-04
23113 74 R/Q 107 rs370890454 0.1478 None gnomAD-4.0.0 2.26862E-04
23113 74 R/W 107 rs749409444 0.1478 None gnomAD-2.1.1 6.05E-05
23113 74 R/W 107 rs749409444 0.1478 None gnomAD-3.1.2 6.58E-06
23113 74 R/W 107 rs749409444 0.1478 None gnomAD-4.0.0 1.30172E-05
23114 75 V/D 108 None 0.1053 None gnomAD-4.0.0 1.36863E-06
23116 77 A/D 110 rs2154173466 0.0912 None gnomAD-4.0.0 1.08029E-05
23117 78 V/A 111 None 0.1619 None gnomAD-4.0.0 1.59183E-06
23117 78 V/G 111 rs968207606 0.1619 None gnomAD-3.1.2 6.58E-06
23117 78 V/G 111 rs968207606 0.1619 None gnomAD-4.0.0 2.56316E-06
23117 78 V/I 111 None 0.1619 None gnomAD-4.0.0 1.59185E-06
23118 79 N/H 112 None 0.1120 None gnomAD-4.0.0 1.20032E-06
23119 80 H/R 113 None 0.8579 None gnomAD-4.0.0 1.20032E-06
23120 81 Y/C 114 rs1271048199 0.7146 None gnomAD-3.1.2 6.57E-06
23120 81 Y/C 114 rs1271048199 0.7146 None gnomAD-4.0.0 3.04497E-06
23121 82 G/S 115 None 0.2169 None gnomAD-4.0.0 3.60097E-06
23124 85 E/Q 119 None 0.7008 None gnomAD-4.0.0 2.40064E-06
23125 86 P/S 120 None 0.3782 None gnomAD-4.0.0 1.59197E-06
23126 87 V/I 121 rs756671149 0.2225 None gnomAD-2.1.1 4.03E-06
23126 87 V/I 121 rs756671149 0.2225 None gnomAD-4.0.0 6.84363E-07
23126 87 V/L 121 rs756671149 0.2225 None gnomAD-2.1.1 4.03E-06
23126 87 V/L 121 rs756671149 0.2225 None gnomAD-3.1.2 4.6E-05
23126 87 V/L 121 rs756671149 0.2225 None gnomAD-4.0.0 9.91761E-06
23127 88 Q/E 122 rs953796748 0.4785 None gnomAD-2.1.1 4.03E-06
23127 88 Q/E 122 rs953796748 0.4785 None gnomAD-3.1.2 6.58E-06
23127 88 Q/E 122 rs953796748 0.4785 None gnomAD-4.0.0 5.12706E-06
23128 89 S/Y 123 rs72646882 0.1557 None gnomAD-2.1.1 7.51476E-04
23128 89 S/Y 123 rs72646882 0.1557 None gnomAD-3.1.2 2.24932E-03
23128 89 S/Y 123 rs72646882 0.1557 None 1000 genomes 1.39776E-03
23128 89 S/Y 123 rs72646882 0.1557 None gnomAD-4.0.0 4.15914E-04
23129 90 E/G 125 rs755308234 0.6936 None gnomAD-2.1.1 8.06E-06
23129 90 E/G 125 rs755308234 0.6936 None gnomAD-4.0.0 1.36883E-05
23129 90 E/K 125 rs1394354671 0.6936 None gnomAD-2.1.1 4.03E-06
23129 90 E/K 125 rs1394354671 0.6936 None gnomAD-4.0.0 1.59245E-06
23130 91 P/S 126 None 0.4554 None gnomAD-4.0.0 1.59241E-06
23131 92 V/I 127 None 0.2345 None gnomAD-4.0.0 2.74301E-06
23133 94 M/V 130 None 0.0704 None gnomAD-4.0.0 1.59791E-06
23134 95 V/I 131 rs1373489781 0.4272 None gnomAD-4.0.0 1.37114E-06
23134 95 V/L 131 rs1373489781 0.4272 None gnomAD-2.1.1 4.05E-06
23134 95 V/L 131 rs1373489781 0.4272 None gnomAD-4.0.0 6.85572E-07