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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
8928 3 F/L 3 None 0.1341 None gnomAD-4.0.0 1.20032E-06
8930 5 R/G 5 None 0.4604 None gnomAD-4.0.0 1.20032E-06
8930 5 R/T 5 rs1206653316 0.4604 None gnomAD-2.1.1 3.2E-05
8930 5 R/T 5 rs1206653316 0.4604 None gnomAD-3.1.2 6.61E-06
8930 5 R/T 5 rs1206653316 0.4604 None gnomAD-4.0.0 3.04786E-06
8931 6 K/I 7 rs759670367 0.5364 None gnomAD-2.1.1 5.98E-06
8931 6 K/I 7 rs759670367 0.5364 None gnomAD-3.1.2 6.58E-06
8931 6 K/I 7 rs759670367 0.5364 None gnomAD-4.0.0 3.85826E-06
8932 7 L/F 8 None 0.1819 None gnomAD-4.0.0 3.50549E-06
8932 7 L/S 8 rs2154296552 0.1819 None gnomAD-3.1.2 6.59E-06
8932 7 L/S 8 rs2154296552 0.1819 None gnomAD-4.0.0 6.58016E-06
8933 8 K/E 9 None 0.8248 None gnomAD-4.0.0 1.20032E-06
8934 9 E/K 11 rs2076941615 0.6060 None gnomAD-4.0.0 1.7432E-06
8935 10 T/R 13 rs571245328 0.2995 None gnomAD-2.1.1 1.93E-05
8935 10 T/R 13 rs571245328 0.2995 None gnomAD-3.1.2 2.63E-05
8935 10 T/R 13 rs571245328 0.2995 None gnomAD-4.0.0 9.59104E-06
8937 12 G/V 16 None 0.2027 None gnomAD-4.0.0 1.20032E-06
8940 15 G/A 24 None 0.3337 None gnomAD-4.0.0 1.67742E-06
8940 15 G/S 24 rs201005813 0.3337 None gnomAD-2.1.1 3.11272E-04
8940 15 G/S 24 rs201005813 0.3337 None gnomAD-3.1.2 9.08253E-04
8940 15 G/S 24 rs201005813 0.3337 None 1000 genomes 5.99042E-04
8940 15 G/S 24 rs201005813 0.3337 None gnomAD-4.0.0 1.87174E-04
8942 17 S/L 26 None 0.3576 None gnomAD-4.0.0 6.95618E-07
8943 18 V/D 28 rs948198555 0.2292 None gnomAD-2.1.1 4.64E-06
8943 18 V/D 28 rs948198555 0.2292 None gnomAD-3.1.2 1.31E-05
8943 18 V/D 28 rs948198555 0.2292 None gnomAD-4.0.0 6.56678E-06
8943 18 V/I 28 rs529187709 0.2292 None gnomAD-2.1.1 1.17134E-04
8943 18 V/I 28 rs529187709 0.2292 None gnomAD-3.1.2 4.6E-05
8943 18 V/I 28 rs529187709 0.2292 None 1000 genomes 3.99361E-04
8943 18 V/I 28 rs529187709 0.2292 None gnomAD-4.0.0 6.71699E-05
8944 19 V/A 29 rs1577869516 0.4106 None gnomAD-4.0.0 1.63684E-06
8944 19 V/I 29 rs72648993 0.4106 None gnomAD-2.1.1 1.84E-05
8944 19 V/I 29 rs72648993 0.4106 None gnomAD-3.1.2 1.31E-05
8944 19 V/I 29 rs72648993 0.4106 None gnomAD-4.0.0 1.31569E-05
8945 20 M/I 30 rs778950787 0.1227 None gnomAD-2.1.1 8.95E-06
8945 20 M/I 30 rs778950787 0.1227 None gnomAD-4.0.0 1.62758E-06
8945 20 M/T 30 None 0.1227 None gnomAD-4.0.0 1.38266E-06
8945 20 M/V 30 rs1300614225 0.1227 None gnomAD-2.1.1 4.51E-06
8945 20 M/V 30 rs1300614225 0.1227 None gnomAD-4.0.0 1.63025E-06
8947 22 C/R 33 None 0.0734 None gnomAD-4.0.0 6.90009E-07
8947 22 C/S 33 rs757162312 0.0734 None gnomAD-2.1.1 4.42E-06
8947 22 C/S 33 rs757162312 0.0734 None gnomAD-4.0.0 6.90009E-07
8947 22 C/Y 33 rs562939601 0.0734 None gnomAD-3.1.2 1.31E-05
8947 22 C/Y 33 rs562939601 0.0734 None 1000 genomes 1.99681E-04
8947 22 C/Y 33 rs562939601 0.0734 None gnomAD-4.0.0 7.80709E-06
8949 24 V/L 35 rs781692388 0.1179 None gnomAD-2.1.1 1.14E-05
8949 24 V/L 35 rs781692388 0.1179 None gnomAD-3.1.2 6.57E-06
8949 24 V/L 35 rs781692388 0.1179 None gnomAD-4.0.0 3.86317E-05
8950 25 Y/C 38 rs199557654 0.6085 None gnomAD-2.1.1 3.25723E-04
8950 25 Y/C 38 rs199557654 0.6085 None gnomAD-3.1.2 2.6951E-04
8950 25 Y/C 38 rs199557654 0.6085 None 1000 genomes 1.99681E-04
8950 25 Y/C 38 rs199557654 0.6085 None gnomAD-4.0.0 3.49103E-04
8951 26 G/E 40 rs1192471071 0.3329 None gnomAD-2.1.1 4.21E-06
8951 26 G/E 40 rs1192471071 0.3329 None gnomAD-4.0.0 3.43499E-06
8951 26 G/R 40 None 0.3329 None gnomAD-4.0.0 6.8717E-07
8953 28 P/L 42 rs1195723456 0.7411 None gnomAD-4.0.0 1.60145E-06
8953 28 P/S 42 rs756003188 0.7411 None gnomAD-2.1.1 3.75E-05
8953 28 P/S 42 rs756003188 0.7411 None gnomAD-3.1.2 9.2E-05
8953 28 P/S 42 rs756003188 0.7411 None gnomAD-4.0.0 2.29953E-05
8954 29 P/L 43 rs752903252 0.8136 None gnomAD-2.1.1 4.12E-06
8954 29 P/L 43 rs752903252 0.8136 None gnomAD-4.0.0 2.74301E-06
8955 30 I/V 44 rs72648994 0.2269 None gnomAD-2.1.1 3.78195E-03
8955 30 I/V 44 rs72648994 0.2269 None gnomAD-3.1.2 2.72132E-03
8955 30 I/V 44 rs72648994 0.2269 None 1000 genomes 2.19649E-03
8955 30 I/V 44 rs72648994 0.2269 None gnomAD-4.0.0 2.25398E-03
8956 31 S/F 45 rs759580470 0.4566 None gnomAD-2.1.1 4.09E-06
8956 31 S/F 45 rs759580470 0.4566 None gnomAD-4.0.0 1.59735E-06
8957 32 V/I 46 rs1008014872 0.3101 None gnomAD-3.1.2 4.6E-05
8957 32 V/I 46 rs1008014872 0.3101 None gnomAD-4.0.0 5.58425E-06
8957 32 V/L 46 None 0.3101 None gnomAD-4.0.0 6.85124E-07
8958 33 S/F 47 rs751670561 0.2422 None gnomAD-2.1.1 1.63E-05
8958 33 S/F 47 rs751670561 0.2422 None gnomAD-3.1.2 6.57E-06
8958 33 S/F 47 rs751670561 0.2422 None gnomAD-4.0.0 6.20299E-06
8958 33 S/P 47 rs886038913 0.2422 None gnomAD-3.1.2 6.57E-06
8958 33 S/P 47 rs886038913 0.2422 None gnomAD-4.0.0 6.57281E-06
8959 34 W/L 48 None 0.1214 None gnomAD-4.0.0 6.84813E-07
8961 36 H/P 50 None 0.1702 None gnomAD-4.0.0 6.84649E-07
8961 36 H/R 50 rs766862084 0.1702 None gnomAD-2.1.1 1.21E-05
8961 36 H/R 50 rs766862084 0.1702 None gnomAD-3.1.2 1.31E-05
8961 36 H/R 50 rs766862084 0.1702 None gnomAD-4.0.0 6.88266E-05
8961 36 H/Y 50 rs2076926371 0.1702 None gnomAD-3.1.2 6.58E-06
8961 36 H/Y 50 rs2076926371 0.1702 None gnomAD-4.0.0 6.57566E-06
8962 37 E/D 51 rs2076925397 0.4732 None gnomAD-3.1.2 6.57E-06
8962 37 E/D 51 rs2076925397 0.4732 None gnomAD-4.0.0 6.57263E-06
8962 37 E/V 51 None 0.4732 None gnomAD-4.0.0 3.18641E-06
8963 38 G/V 52 rs1225996636 0.4013 None gnomAD-4.0.0 1.59306E-06
8964 39 N/K 55 None 0.6055 None gnomAD-4.0.0 7.53702E-06
8965 40 E/K 56 rs200325324 0.5228 None gnomAD-2.1.1 7.17E-05
8965 40 E/K 56 rs200325324 0.5228 None gnomAD-3.1.2 3.29E-05
8965 40 E/K 56 rs200325324 0.5228 None gnomAD-4.0.0 4.83579E-05
8966 41 I/T 58 None 0.1410 None gnomAD-4.0.0 1.20032E-06
8966 41 I/V 58 None 0.1410 None gnomAD-4.0.0 1.20032E-06
8967 42 S/C 59 rs1046768266 0.7628 None gnomAD-3.1.2 1.31E-05
8967 42 S/C 59 rs1046768266 0.7628 None gnomAD-4.0.0 3.84552E-06
8967 42 S/N 59 None 0.7628 None gnomAD-4.0.0 1.20032E-06
8967 42 S/T 59 rs1399004150 0.7628 None gnomAD-2.1.1 3.19E-05
8968 43 S/N 70 None 0.5335 None gnomAD-4.0.0 1.59227E-06
8970 45 R/K 102 rs879143084 0.9882 None gnomAD-4.0.0 1.59201E-06
8971 46 K/E 115 rs373877046 0.1742 None gnomAD-2.1.1 4.03E-06
8971 46 K/E 115 rs373877046 0.1742 None gnomAD-3.1.2 6.57E-06
8971 46 K/E 115 rs373877046 0.1742 None gnomAD-4.0.0 1.98335E-05
8971 46 K/N 115 None 0.1742 None gnomAD-4.0.0 2.73724E-06
8972 47 Y/C 121 None 0.2236 None gnomAD-4.0.0 3.18357E-06
8972 47 Y/H 121 None 0.2236 None gnomAD-4.0.0 1.59181E-06
8974 49 T/A 123 None 0.3488 None gnomAD-4.0.0 1.59168E-06
8974 49 T/I 123 rs1176692583 0.3488 None gnomAD-3.1.2 6.58E-06
8974 49 T/I 123 rs1176692583 0.3488 None gnomAD-4.0.0 2.03005E-06
8975 50 T/I 125 rs771894141 0.5505 None gnomAD-2.1.1 4.02E-06
8975 50 T/N 125 rs771894141 0.5505 None gnomAD-2.1.1 4.02E-06
8975 50 T/N 125 rs771894141 0.5505 None gnomAD-4.0.0 1.59166E-06
8975 50 T/P 125 rs1162554915 0.5505 None gnomAD-3.1.2 6.57E-06
8975 50 T/P 125 rs1162554915 0.5505 None gnomAD-4.0.0 6.57272E-06
8976 51 L/P 127 rs1470719123 0.4177 None gnomAD-3.1.2 6.57E-06
8976 51 L/P 127 rs1470719123 0.4177 None gnomAD-4.0.0 6.57177E-06
8977 52 T/K 130 None 0.6266 None gnomAD-4.0.0 1.59163E-06
8978 53 D/H 131 rs773744166 0.9941 None gnomAD-2.1.1 1.61E-05
8978 53 D/H 131 rs773744166 0.9941 None gnomAD-4.0.0 3.1832E-06
8979 54 N/H 134 rs376982715 0.3189 None gnomAD-2.1.1 1.35664E-04
8979 54 N/H 134 rs376982715 0.3189 None gnomAD-3.1.2 1.7744E-04
8979 54 N/H 134 rs376982715 0.3189 None gnomAD-4.0.0 3.3091E-04
8979 54 N/S 134 rs749174522 0.3189 None gnomAD-2.1.1 8.04E-06
8979 54 N/S 134 rs749174522 0.3189 None gnomAD-4.0.0 1.36852E-06
8980 55 T/I 135 rs777824582 0.2146 None gnomAD-2.1.1 8.04E-06
8980 55 T/I 135 rs777824582 0.2146 None gnomAD-4.0.0 6.15831E-06
8981 56 C/Y 136 None 0.0930 None gnomAD-4.0.0 1.20033E-06
8982 57 A/D 137 rs1171558626 0.1462 None gnomAD-2.1.1 4.02E-06
8982 57 A/D 137 rs1171558626 0.1462 None gnomAD-4.0.0 1.59144E-06
8982 57 A/T 137 rs1384345252 0.1462 None gnomAD-3.1.2 2.63E-05
8982 57 A/T 137 rs1384345252 0.1462 None gnomAD-4.0.0 6.19726E-06
8983 58 L/F 138 rs878969676 0.0628 None gnomAD-2.1.1 4.02E-06
8983 58 L/F 138 rs878969676 0.0628 None gnomAD-4.0.0 6.84241E-06
8983 58 L/V 138 rs2154296469 0.0628 None gnomAD-3.1.2 6.57E-06
8983 58 L/V 138 rs2154296469 0.0628 None gnomAD-4.0.0 6.56711E-06
8987 62 M/I 143 None 0.5349 None gnomAD-4.0.0 1.59138E-06
8987 62 M/L 143 None 0.5349 None gnomAD-4.0.0 6.84227E-07
8987 62 M/T 143 None 0.5349 None gnomAD-4.0.0 1.20032E-06
8988 63 L/M 144 rs2076915849 0.1028 None gnomAD-3.1.2 6.57E-06
8988 63 L/M 144 rs2076915849 0.1028 None gnomAD-4.0.0 6.57471E-06
8988 63 L/P 144 rs2076915544 0.1028 None gnomAD-4.0.0 3.18277E-06
8989 64 E/D 145 None 0.5980 None gnomAD-4.0.0 1.36846E-06
8989 64 E/G 145 None 0.5980 None gnomAD-4.0.0 1.59138E-06
8990 65 E/K 146 None 0.8971 None gnomAD-4.0.0 1.59139E-06
8991 66 S/L 148 None 0.5526 None gnomAD-4.0.0 2.73697E-06
8991 66 S/T 148 rs1196970507 0.5526 None gnomAD-2.1.1 4.02E-06
8991 66 S/T 148 rs1196970507 0.5526 None gnomAD-4.0.0 1.59139E-06
8992 67 D/H 149 None 0.1586 None gnomAD-4.0.0 1.20032E-06
8993 68 S/R 151 rs1453136220 0.2149 None gnomAD-2.1.1 4.42E-05
8993 68 S/R 151 rs1453136220 0.2149 None gnomAD-3.1.2 1.97E-05
8993 68 S/R 151 rs1453136220 0.2149 None 1000 genomes 1.99681E-04
8993 68 S/R 151 rs1453136220 0.2149 None gnomAD-4.0.0 3.18282E-06
8994 69 G/V 152 None 0.1750 None gnomAD-4.0.0 2.40065E-06
8995 70 D/E 153 rs781351100 0.5071 None gnomAD-2.1.1 8.04E-05
8995 70 D/E 153 rs781351100 0.5071 None gnomAD-3.1.2 3.94E-05
8995 70 D/E 153 rs781351100 0.5071 None gnomAD-4.0.0 6.19715E-05
8995 70 D/G 153 rs747976104 0.5071 None gnomAD-2.1.1 1.61E-05
8995 70 D/G 153 rs747976104 0.5071 None gnomAD-4.0.0 6.36551E-06
8997 72 T/A 155 rs953177976 0.1904 None gnomAD-3.1.2 1.31E-05
8997 72 T/A 155 rs953177976 0.1904 None gnomAD-4.0.0 1.31406E-05
8997 72 T/I 155 rs1259415133 0.1904 None gnomAD-2.1.1 3.19E-05
8997 72 T/I 155 rs1259415133 0.1904 None gnomAD-3.1.2 6.57E-06
8997 72 T/I 155 rs1259415133 0.1904 None gnomAD-4.0.0 6.57091E-06
8997 72 T/R 155 rs1259415133 0.1904 None gnomAD-2.1.1 4.02E-06
8997 72 T/R 155 rs1259415133 0.1904 None gnomAD-4.0.0 3.18277E-06
8998 73 C/G 156 rs992449953 0.0568 None gnomAD-4.0.0 1.20032E-06
8999 74 I/T 157 rs1281961108 0.2133 None gnomAD-2.1.1 4.02E-06
8999 74 I/T 157 rs1281961108 0.2133 None gnomAD-3.1.2 6.57E-06
8999 74 I/T 157 rs1281961108 0.2133 None gnomAD-4.0.0 9.91503E-06
8999 74 I/V 157 rs766374343 0.2133 None gnomAD-2.1.1 4.02E-06
8999 74 I/V 157 rs766374343 0.2133 None gnomAD-3.1.2 6.57E-06
8999 74 I/V 157 rs766374343 0.2133 None gnomAD-4.0.0 6.56987E-06
9000 75 A/V 158 rs752994608 0.0905 None gnomAD-4.0.0 4.78971E-06
9003 78 M/I 162 None 0.9625 None gnomAD-4.0.0 1.3685E-06
9003 78 M/T 162 rs2076906083 0.9625 None gnomAD-4.0.0 4.78977E-06
9003 78 M/V 162 None 0.9625 None gnomAD-4.0.0 1.20032E-06
9004 79 A/T 163 None 0.7268 None gnomAD-4.0.0 2.05278E-06
9005 80 G/R 164 rs939492024 0.2916 None gnomAD-4.0.0 1.36852E-06
9006 81 S/F 165 None 0.4239 None gnomAD-4.0.0 1.59165E-06
9007 82 D/V 166 rs1456494692 0.2697 None gnomAD-2.1.1 3.18E-05
9007 82 D/V 166 rs1456494692 0.2697 None gnomAD-3.1.2 1.31E-05
9007 82 D/V 166 rs1456494692 0.2697 None gnomAD-4.0.0 1.31404E-05
9008 83 E/K 168 rs762241119 0.5536 None gnomAD-4.0.0 1.20032E-06
9009 84 C/G 169 rs369287578 0.0920 None gnomAD-2.1.1 4.03E-06
9009 84 C/G 169 rs369287578 0.0920 None gnomAD-4.0.0 1.59181E-06
9009 84 C/R 169 rs369287578 0.0920 None gnomAD-2.1.1 8.05E-06
9009 84 C/R 169 rs369287578 0.0920 None gnomAD-4.0.0 1.59181E-06
9010 85 S/G 171 None 0.3744 None gnomAD-4.0.0 1.36867E-06
9010 85 S/R 171 rs774115714 0.3744 None gnomAD-2.1.1 1.21E-05
9010 85 S/R 171 rs774115714 0.3744 None gnomAD-4.0.0 6.36809E-06
9011 86 A/D 172 rs1280896226 0.1556 None gnomAD-3.1.2 6.57E-06
9011 86 A/D 172 rs1280896226 0.1556 None gnomAD-4.0.0 6.5703E-06
9011 86 A/P 172 rs748877369 0.1556 None gnomAD-2.1.1 4.03E-06
9011 86 A/P 172 rs748877369 0.1556 None gnomAD-4.0.0 1.59226E-06
9011 86 A/S 172 rs748877369 0.1556 None gnomAD-3.1.2 6.57E-06
9011 86 A/S 172 rs748877369 0.1556 None gnomAD-4.0.0 6.57082E-06
9011 86 A/V 172 None 0.1556 None gnomAD-4.0.0 2.40064E-06
9012 87 P/S 173 rs765386562 0.3180 None gnomAD-4.0.0 2.40064E-06
9015 90 V/M 177 rs1478991979 0.1623 None gnomAD-2.1.1 4.03E-06
9015 90 V/M 177 rs1478991979 0.1623 None gnomAD-4.0.0 1.59532E-06