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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
24031 3 V/A 3 None 0.2717 None gnomAD-4.0.0 3.18428E-06
24032 4 D/G 4 rs1559432720 0.3096 None gnomAD-2.1.1 4.03E-06
24032 4 D/G 4 rs1559432720 0.3096 None gnomAD-4.0.0 1.59209E-06
24032 4 D/N 4 None 0.3096 None gnomAD-4.0.0 1.59207E-06
24033 5 V/I 5 rs771227294 0.7244 None gnomAD-4.0.0 1.59202E-06
24034 6 K/T 6 None 0.2575 None gnomAD-4.0.0 1.59204E-06
24035 7 F/C 7 rs759861907 0.1329 None gnomAD-4.0.0 5.47483E-06
24035 7 F/Y 7 rs759861907 0.1329 None gnomAD-2.1.1 4.03E-06
24035 7 F/Y 7 rs759861907 0.1329 None gnomAD-3.1.2 1.32E-05
24035 7 F/Y 7 rs759861907 0.1329 None gnomAD-4.0.0 3.71905E-06
24036 8 K/E 8 rs544263357 0.6994 None gnomAD-2.1.1 8.06E-06
24036 8 K/E 8 rs544263357 0.6994 None gnomAD-3.1.2 6.57E-06
24036 8 K/E 8 rs544263357 0.6994 None gnomAD-4.0.0 2.47933E-06
24036 8 K/Q 8 None 0.6994 None gnomAD-2.1.1 1.21E-05
24036 8 K/Q 8 None 0.6994 None gnomAD-3.1.2 1.31E-05
24036 8 K/Q 8 None 0.6994 None 1000 genomes 1.99681E-04
24036 8 K/Q 8 None 0.6994 None gnomAD-4.0.0 5.5781E-06
24036 8 K/R 8 rs1709185924 0.6994 None gnomAD-4.0.0 2.40064E-06
24037 9 D/N 9 rs916450369 0.8676 None gnomAD-4.0.0 2.40064E-06
24038 10 T/M 11 rs370375696 0.3848 None gnomAD-2.1.1 1.35913E-03
24038 10 T/M 11 rs370375696 0.3848 None gnomAD-3.1.2 3.09231E-04
24038 10 T/M 11 rs370375696 0.3848 None 1000 genomes 1.99681E-03
24038 10 T/M 11 rs370375696 0.3848 None gnomAD-4.0.0 6.6572E-04
24039 11 V/G 13 None 0.2490 None gnomAD-4.0.0 2.05312E-06
24040 12 I/L 14 None 0.5298 None gnomAD-4.0.0 1.20032E-06
24040 12 I/T 14 None 0.5298 None gnomAD-4.0.0 1.36874E-06
24041 13 L/S 16 rs1245486609 0.1049 None gnomAD-2.1.1 4.03E-06
24041 13 L/S 16 rs1245486609 0.1049 None gnomAD-4.0.0 1.59218E-06
24043 15 A/S 23 rs760621388 0.2766 None gnomAD-2.1.1 4.03E-06
24043 15 A/S 23 rs760621388 0.2766 None gnomAD-3.1.2 6.58E-06
24043 15 A/S 23 rs760621388 0.2766 None gnomAD-4.0.0 2.5636E-06
24043 15 A/T 23 None 0.2766 None gnomAD-4.0.0 1.59219E-06
24043 15 A/V 23 None 0.2766 None gnomAD-4.0.0 1.20032E-06
24044 16 G/D 24 rs794729491 0.3911 None gnomAD-2.1.1 4.03E-06
24044 16 G/D 24 rs794729491 0.3911 None gnomAD-4.0.0 1.36877E-06
24044 16 G/S 24 None 0.3911 None gnomAD-4.0.0 1.20032E-06
24045 17 E/K 25 rs1406753487 0.2983 None gnomAD-2.1.1 8.06E-06
24045 17 E/K 25 rs1406753487 0.2983 None gnomAD-4.0.0 2.73756E-06
24046 18 A/V 26 rs146767076 0.3974 None gnomAD-2.1.1 4.65023E-04
24046 18 A/V 26 rs146767076 0.3974 None gnomAD-3.1.2 1.28881E-03
24046 18 A/V 26 rs146767076 0.3974 None 1000 genomes 1.39776E-03
24046 18 A/V 26 rs146767076 0.3974 None gnomAD-4.0.0 2.36774E-04
24047 19 F/L 28 rs1709172090 0.1479 None gnomAD-3.1.2 6.58E-06
24047 19 F/L 28 rs1709172090 0.1479 None gnomAD-4.0.0 4.3391E-06
24049 21 L/P 30 rs56399205 0.0637 None gnomAD-2.1.1 5.50799E-04
24049 21 L/P 30 rs56399205 0.0637 None gnomAD-3.1.2 6.90317E-04
24049 21 L/P 30 rs56399205 0.0637 None 1000 genomes 1.99681E-04
24049 21 L/P 30 rs56399205 0.0637 None gnomAD-4.0.0 1.15904E-03
24050 22 E/G 31 rs771209223 0.2604 None gnomAD-2.1.1 8.06E-05
24050 22 E/G 31 rs771209223 0.2604 None gnomAD-3.1.2 1.97E-05
24050 22 E/G 31 rs771209223 0.2604 None gnomAD-4.0.0 3.40915E-05
24050 22 E/K 31 None 0.2604 None gnomAD-4.0.0 1.20032E-06
24051 23 A/G 33 rs749531610 0.1196 None gnomAD-2.1.1 4.03E-06
24051 23 A/G 33 rs749531610 0.1196 None gnomAD-4.0.0 1.59223E-06
24051 23 A/T 33 rs1443600141 0.1196 None gnomAD-2.1.1 4.03E-06
24051 23 A/T 33 rs1443600141 0.1196 None gnomAD-3.1.2 6.57E-06
24051 23 A/T 33 rs1443600141 0.1196 None gnomAD-4.0.0 6.19867E-06
24052 24 D/N 34 rs777857293 0.6332 None gnomAD-2.1.1 4.03E-06
24052 24 D/N 34 rs777857293 0.6332 None gnomAD-3.1.2 6.57E-06
24052 24 D/N 34 rs777857293 0.6332 None gnomAD-4.0.0 2.56354E-06
24052 24 D/V 34 None 0.6332 None gnomAD-4.0.0 1.20032E-06
24053 25 V/D 35 None 0.1496 None gnomAD-4.0.0 1.59221E-06
24054 26 S/L 38 None 0.7387 None gnomAD-4.0.0 1.36877E-06
24056 28 R/C 41 rs372662393 0.8991 None gnomAD-2.1.1 3.58E-05
24056 28 R/C 41 rs372662393 0.8991 None gnomAD-3.1.2 1.05263E-04
24056 28 R/C 41 rs372662393 0.8991 None gnomAD-4.0.0 2.29346E-05
24056 28 R/G 41 None 0.8991 None gnomAD-4.0.0 1.36877E-06
24056 28 R/H 41 rs398124455 0.8991 None gnomAD-2.1.1 2.54087E-04
24056 28 R/H 41 rs398124455 0.8991 None gnomAD-3.1.2 4.6E-05
24056 28 R/H 41 rs398124455 0.8991 None gnomAD-4.0.0 1.43185E-04
24056 28 R/L 41 rs398124455 0.8991 None gnomAD-2.1.1 4.03E-06
24056 28 R/L 41 rs398124455 0.8991 None gnomAD-4.0.0 3.42202E-06
24056 28 R/S 41 rs372662393 0.8991 None gnomAD-4.0.0 7.52824E-06
24057 29 P/L 42 rs781601295 0.4822 None gnomAD-2.1.1 4.03E-06
24057 29 P/Q 42 None 0.4822 None gnomAD-4.0.0 6.84388E-07
24060 32 T/A 45 rs1709156357 0.6346 None gnomAD-4.0.0 1.08029E-05
24060 32 T/I 45 None 0.6346 None gnomAD-4.0.0 1.59224E-06
24061 33 M/I 46 None 0.1565 None gnomAD-4.0.0 1.20032E-06
24061 33 M/T 46 rs200471370 0.1565 None gnomAD-2.1.1 1.35953E-04
24061 33 M/T 46 rs200471370 0.1565 None gnomAD-3.1.2 1.31631E-04
24061 33 M/T 46 rs200471370 0.1565 None gnomAD-4.0.0 2.91985E-04
24061 33 M/V 46 rs201482015 0.1565 None gnomAD-2.1.1 1.0732E-04
24061 33 M/V 46 rs201482015 0.1565 None gnomAD-3.1.2 3.87908E-04
24061 33 M/V 46 rs201482015 0.1565 None 1000 genomes 3.99361E-04
24061 33 M/V 46 rs201482015 0.1565 None gnomAD-4.0.0 7.87176E-05
24062 34 E/G 47 rs893332061 0.5732 None gnomAD-3.1.2 6.57E-06
24062 34 E/G 47 rs893332061 0.5732 None gnomAD-4.0.0 2.56352E-06
24063 35 W/R 48 rs1377985355 0.1454 None gnomAD-3.1.2 6.58E-06
24063 35 W/R 48 rs1377985355 0.1454 None gnomAD-4.0.0 2.47952E-06
24064 36 S/C 49 rs1222159679 0.1731 None gnomAD-2.1.1 4.03E-06
24064 36 S/C 49 rs1222159679 0.1731 None gnomAD-4.0.0 1.23191E-05
24064 36 S/G 49 None 0.1731 None gnomAD-4.0.0 6.84394E-07
24064 36 S/N 49 None 0.1731 None gnomAD-4.0.0 1.59235E-06
24064 36 S/R 49 None 0.1731 None gnomAD-4.0.0 1.59235E-06
24066 38 D/N 51 rs1357579405 0.6348 None gnomAD-2.1.1 4.03E-06
24066 38 D/N 51 rs1357579405 0.6348 None gnomAD-4.0.0 2.73767E-06
24068 40 K/E 55 rs766736138 0.8540 None gnomAD-2.1.1 4.03E-06
24068 40 K/E 55 rs766736138 0.8540 None gnomAD-3.1.2 6.57E-06
24068 40 K/E 55 rs766736138 0.8540 None gnomAD-4.0.0 3.09964E-06
24069 41 E/G 56 None 0.7062 None gnomAD-4.0.0 1.59294E-06
24070 42 L/Q 58 rs1709142629 0.2296 None gnomAD-3.1.2 6.57E-06
24070 42 L/Q 58 rs1709142629 0.2296 None gnomAD-4.0.0 6.57272E-06
24070 42 L/V 58 None 0.2296 None gnomAD-4.0.0 6.84521E-07
24073 45 T/I 73 None 0.4277 None gnomAD-4.0.0 2.05464E-06
24073 45 T/R 73 rs753519331 0.4277 None gnomAD-2.1.1 1.61E-05
24073 45 T/R 73 rs753519331 0.4277 None gnomAD-4.0.0 6.84881E-06
24076 48 L/V 121 rs202098308 0.1775 None gnomAD-2.1.1 7.17E-05
24076 48 L/V 121 rs202098308 0.1775 None gnomAD-3.1.2 6.57E-05
24076 48 L/V 121 rs202098308 0.1775 None gnomAD-4.0.0 4.90226E-05
24077 49 E/Q 122 None 0.4070 None gnomAD-4.0.0 6.85309E-07
24078 50 I/M 123 None 0.2269 None gnomAD-4.0.0 6.85314E-07
24078 50 I/T 123 None 0.2269 None gnomAD-4.0.0 3.19447E-06
24078 50 I/V 123 rs876658080 0.2269 None gnomAD-3.1.2 2.63E-05
24078 50 I/V 123 rs876658080 0.2269 None gnomAD-4.0.0 9.30841E-06
24079 51 K/R 125 rs775482499 0.4956 None gnomAD-2.1.1 2.02E-05
24079 51 K/R 125 rs775482499 0.4956 None gnomAD-3.1.2 1.97E-05
24079 51 K/R 125 rs775482499 0.4956 None gnomAD-4.0.0 1.55153E-05
24080 52 I/T 127 None 0.4247 None gnomAD-4.0.0 1.59775E-06
24081 53 A/P 130 None 0.3691 None gnomAD-4.0.0 1.5978E-06
24081 53 A/V 130 rs771966894 0.3691 None gnomAD-2.1.1 4.03E-06
24081 53 A/V 130 rs771966894 0.3691 None gnomAD-4.0.0 1.59754E-06
24082 54 D/E 131 None 0.7059 None gnomAD-4.0.0 2.40064E-06
24083 55 F/L 134 None 0.4189 None gnomAD-4.0.0 2.40064E-06
24083 55 F/V 134 rs759548192 0.4189 None gnomAD-2.1.1 1.21E-05
24083 55 F/V 134 rs759548192 0.4189 None gnomAD-4.0.0 4.79262E-06
24084 56 S/P 135 None 0.3118 None gnomAD-4.0.0 2.74154E-06
24085 57 T/N 136 rs1317961442 0.1226 None gnomAD-2.1.1 3.19E-05
24085 57 T/N 136 rs1317961442 0.1226 None gnomAD-3.1.2 6.57E-06
24085 57 T/N 136 rs1317961442 0.1226 None gnomAD-4.0.0 6.57289E-06
24087 59 L/P 138 rs1371976311 0.0736 None gnomAD-2.1.1 8.06E-06
24087 59 L/P 138 rs1371976311 0.0736 None gnomAD-4.0.0 2.74285E-06
24087 59 L/V 138 None 0.0736 None gnomAD-4.0.0 1.59748E-06
24088 60 V/A 139 rs774226045 0.2042 None gnomAD-2.1.1 1.16869E-04
24088 60 V/A 139 rs774226045 0.2042 None gnomAD-3.1.2 6.58E-06
24088 60 V/A 139 rs774226045 0.2042 None gnomAD-4.0.0 4.4693E-05
24088 60 V/E 139 None 0.2042 None gnomAD-4.0.0 2.05633E-06
24089 61 N/K 140 None 0.1076 None gnomAD-4.0.0 1.20032E-06
24089 61 N/Y 140 rs1709123437 0.1076 None gnomAD-3.1.2 6.57E-06
24089 61 N/Y 140 rs1709123437 0.1076 None gnomAD-4.0.0 2.57093E-06
24090 62 K/E 141 rs1709122606 0.4114 None gnomAD-3.1.2 6.57E-06
24091 63 D/G 143 rs749484938 0.6346 None gnomAD-2.1.1 5.24E-05
24091 63 D/G 143 rs749484938 0.6346 None gnomAD-3.1.2 4.6E-05
24091 63 D/G 143 rs749484938 0.6346 None gnomAD-4.0.0 2.48323E-05
24091 63 D/H 143 rs878924658 0.6346 None gnomAD-2.1.1 2.82E-05
24091 63 D/H 143 rs878924658 0.6346 None gnomAD-4.0.0 1.02842E-05
24092 64 S/T 144 None 0.0853 None gnomAD-4.0.0 6.85447E-07
24093 65 T/A 145 None 0.3453 None gnomAD-4.0.0 2.40064E-06
24093 65 T/I 145 rs777900528 0.3453 None gnomAD-2.1.1 4.03E-06
24093 65 T/I 145 rs777900528 0.3453 None gnomAD-3.1.2 1.32E-05
24093 65 T/I 145 rs777900528 0.3453 None gnomAD-4.0.0 3.10318E-06
24096 68 D/N 149 None 0.1601 None gnomAD-4.0.0 1.59655E-06
24097 69 S/N 151 None 0.1776 None gnomAD-4.0.0 2.05543E-06
24098 70 G/A 152 None 0.2290 None gnomAD-4.0.0 6.85085E-07
24098 70 G/D 152 rs1223488686 0.2290 None gnomAD-2.1.1 4.03E-06
24098 70 G/D 152 rs1223488686 0.2290 None gnomAD-4.0.0 2.05526E-06
24098 70 G/S 152 None 0.2290 None gnomAD-4.0.0 1.20032E-06
24099 71 A/S 153 rs748236500 0.3015 None gnomAD-2.1.1 2.82E-05
24099 71 A/S 153 rs748236500 0.3015 None gnomAD-3.1.2 6.58E-06
24099 71 A/S 153 rs748236500 0.3015 None gnomAD-4.0.0 1.1562E-05
24099 71 A/V 153 rs781721483 0.3015 None gnomAD-2.1.1 2.82E-05
24099 71 A/V 153 rs781721483 0.3015 None gnomAD-3.1.2 6.58E-06
24099 71 A/V 153 rs781721483 0.3015 None gnomAD-4.0.0 1.15533E-05
24100 72 Y/S 154 None 0.1125 None gnomAD-4.0.0 4.78495E-06
24101 73 T/I 155 rs192962624 0.2064 None gnomAD-2.1.1 2.82E-05
24101 73 T/I 155 rs192962624 0.2064 None gnomAD-4.0.0 1.23266E-05
24101 73 T/N 155 None 0.2064 None gnomAD-2.1.1 3.64752E-04
24101 73 T/N 155 None 0.2064 None gnomAD-3.1.2 1.84135E-04
24101 73 T/N 155 None 0.2064 None 1000 genomes 3.99361E-04
24101 73 T/N 155 None 0.2064 None gnomAD-4.0.0 1.383E-04
24102 74 L/R 156 None 0.0781 None gnomAD-4.0.0 1.20032E-06
24102 74 L/V 156 rs780348282 0.0781 None gnomAD-2.1.1 4.03E-06
24102 74 L/V 156 rs780348282 0.0781 None gnomAD-4.0.0 1.37012E-06
24103 75 T/I 157 rs758801815 0.1901 None gnomAD-2.1.1 4.03E-06
24103 75 T/I 157 rs758801815 0.1901 None gnomAD-4.0.0 1.36996E-06
24103 75 T/R 157 None 0.1901 None gnomAD-4.0.0 6.84978E-07
24104 76 A/V 158 rs753506004 0.1187 None gnomAD-2.1.1 1.07E-05
24104 76 A/V 158 rs753506004 0.1187 None gnomAD-3.1.2 6.58E-06
24104 76 A/V 158 rs753506004 0.1187 None gnomAD-4.0.0 2.56945E-06
24105 77 T/I 159 None 0.3487 None gnomAD-4.0.0 1.20032E-06
24106 78 N/T 161 rs1386956312 0.1968 None gnomAD-2.1.1 4.03E-06
24106 78 N/T 161 rs1386956312 0.1968 None gnomAD-3.1.2 6.58E-06
24106 78 N/T 161 rs1386956312 0.1968 None gnomAD-4.0.0 2.56909E-06
24107 79 P/A 162 None 0.7553 None gnomAD-4.0.0 8.40227E-06
24107 79 P/H 162 None 0.7553 None gnomAD-4.0.0 6.8518E-07
24107 79 P/T 162 rs1709102867 0.7553 None gnomAD-3.1.2 6.58E-06
24107 79 P/T 162 rs1709102867 0.7553 None gnomAD-4.0.0 6.57635E-06
24108 80 G/D 163 rs1056756805 0.6767 None gnomAD-2.1.1 4.04E-06
24108 80 G/D 163 rs1056756805 0.6767 None gnomAD-4.0.0 2.74118E-06
24108 80 G/R 163 rs1709100410 0.6767 None gnomAD-4.0.0 1.59746E-06
24109 81 G/A 164 rs1165671355 0.3299 None gnomAD-2.1.1 8.08E-06
24109 81 G/A 164 rs1165671355 0.3299 None gnomAD-4.0.0 4.79388E-06
24111 83 A/P 166 rs369671334 0.3020 None gnomAD-2.1.1 7.54E-05
24111 83 A/P 166 rs369671334 0.3020 None gnomAD-3.1.2 7.23E-05
24111 83 A/P 166 rs369671334 0.3020 None gnomAD-4.0.0 4.5321E-05
24112 84 K/E 168 None 0.4346 None gnomAD-4.0.0 1.59852E-06
24113 85 H/P 169 None 0.2813 None gnomAD-4.0.0 3.19953E-06
24114 86 I/N 171 None 0.5187 None gnomAD-4.0.0 2.74366E-06
24114 86 I/V 171 None 0.5187 None gnomAD-4.0.0 1.60077E-06
24115 87 F/C 172 rs1709094367 0.0859 None gnomAD-3.1.2 6.57E-06
24115 87 F/C 172 rs1709094367 0.0859 None gnomAD-4.0.0 2.57495E-06
24116 88 N/S 173 rs767147291 0.4920 None gnomAD-2.1.1 4.07E-06
24116 88 N/S 173 rs767147291 0.4920 None gnomAD-4.0.0 1.20032E-06
24117 89 V/I 174 rs375554194 0.0987 None gnomAD-2.1.1 3.19E-05
24117 89 V/I 174 rs375554194 0.0987 None gnomAD-3.1.2 1.31E-05
24117 89 V/I 174 rs375554194 0.0987 None gnomAD-4.0.0 3.86674E-06