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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7230 1 A/S 1 rs1458297684 0.1339 None gnomAD-4.0.0 6.00161E-06
7230 1 A/V 1 rs761223583 0.1339 None gnomAD-2.1.1 5.29E-05
7230 1 A/V 1 rs761223583 0.1339 None gnomAD-3.1.2 1.97E-05
7230 1 A/V 1 rs761223583 0.1339 None gnomAD-4.0.0 2.73078E-05
7231 2 A/E 2 None 0.3223 None gnomAD-4.0.0 1.20032E-06
7231 2 A/T 2 rs1486491329 0.3223 None gnomAD-2.1.1 4.07E-06
7231 2 A/T 2 rs1486491329 0.3223 None gnomAD-4.0.0 2.74132E-06
7232 3 F/L 3 None 0.1276 None gnomAD-4.0.0 1.20032E-06
7232 3 F/V 3 rs776163887 0.1276 None gnomAD-2.1.1 4.88E-05
7232 3 F/V 3 rs776163887 0.1276 None gnomAD-3.1.2 2.63E-05
7232 3 F/V 3 rs776163887 0.1276 None gnomAD-4.0.0 2.10943E-05
7233 4 L/F 4 rs370679926 0.7879 None gnomAD-4.0.0 1.37052E-06
7233 4 L/M 4 None 0.7879 None gnomAD-4.0.0 1.20032E-06
7234 5 K/E 5 rs1243074128 0.3525 None gnomAD-2.1.1 4.07E-06
7234 5 K/E 5 rs1243074128 0.3525 None gnomAD-4.0.0 3.19281E-06
7234 5 K/R 5 rs2078749547 0.3525 None gnomAD-4.0.0 1.59662E-06
7235 6 R/G 7 None 0.3261 None gnomAD-4.0.0 1.20032E-06
7235 6 R/S 7 rs772506057 0.3261 None gnomAD-2.1.1 4.06E-06
7235 6 R/S 7 rs772506057 0.3261 None gnomAD-4.0.0 1.59434E-06
7236 7 L/I 8 None 0.2190 None gnomAD-4.0.0 6.16289E-06
7236 7 L/S 8 rs746222807 0.2190 None gnomAD-2.1.1 2.16E-05
7236 7 L/S 8 rs746222807 0.2190 None gnomAD-3.1.2 3.94E-05
7236 7 L/S 8 rs746222807 0.2190 None gnomAD-4.0.0 9.30223E-06
7237 8 S/C 9 None 0.6673 None gnomAD-4.0.0 1.36945E-06
7237 8 S/N 9 rs769315703 0.6673 None gnomAD-2.1.1 4.06E-06
7237 8 S/R 9 None 0.6673 None gnomAD-4.0.0 1.59411E-06
7237 8 S/T 9 rs769315703 0.6673 None gnomAD-2.1.1 4.06E-06
7237 8 S/T 9 rs769315703 0.6673 None gnomAD-3.1.2 6.57E-06
7237 8 S/T 9 rs769315703 0.6673 None gnomAD-4.0.0 2.02999E-06
7238 9 D/E 11 rs2078746720 0.6082 None gnomAD-4.0.0 1.3691E-06
7238 9 D/H 11 rs747881141 0.6082 None gnomAD-3.1.2 6.57E-06
7238 9 D/H 11 rs747881141 0.6082 None gnomAD-4.0.0 6.57402E-06
7238 9 D/N 11 rs747881141 0.6082 None gnomAD-2.1.1 1.44E-05
7238 9 D/N 11 rs747881141 0.6082 None gnomAD-3.1.2 1.97E-05
7238 9 D/N 11 rs747881141 0.6082 None gnomAD-4.0.0 6.20152E-06
7238 9 D/V 11 rs780646514 0.6082 None gnomAD-2.1.1 3.65E-05
7238 9 D/V 11 rs780646514 0.6082 None gnomAD-4.0.0 1.27536E-05
7239 10 H/R 13 None 0.6474 None gnomAD-4.0.0 3.1845E-06
7240 11 S/F 14 None 0.5575 None gnomAD-4.0.0 1.59228E-06
7241 12 V/A 16 rs1292676739 0.2247 None gnomAD-2.1.1 4.05E-06
7241 12 V/A 16 rs1292676739 0.2247 None gnomAD-4.0.0 1.59215E-06
7241 12 V/I 16 rs367854582 0.2247 None gnomAD-2.1.1 6.11E-05
7241 12 V/I 16 rs367854582 0.2247 None gnomAD-3.1.2 1.90639E-04
7241 12 V/I 16 rs367854582 0.2247 None 1000 genomes 1.99681E-04
7241 12 V/I 16 rs367854582 0.2247 None gnomAD-4.0.0 3.47095E-05
7241 12 V/L 16 None 0.2247 None gnomAD-4.0.0 6.8439E-07
7243 14 P/L 23 rs193060723 0.6181 None gnomAD-2.1.1 8.1E-06
7243 14 P/L 23 rs193060723 0.6181 None gnomAD-3.1.2 1.97E-05
7243 14 P/L 23 rs193060723 0.6181 None 1000 genomes 3.99361E-04
7243 14 P/L 23 rs193060723 0.6181 None gnomAD-4.0.0 8.67717E-06
7243 14 P/S 23 None 0.6181 None gnomAD-4.0.0 1.59201E-06
7244 15 G/E 24 None 0.2891 None gnomAD-4.0.0 5.47479E-06
7245 16 K/T 25 None 0.5178 None gnomAD-4.0.0 1.20032E-06
7246 17 S/F 26 rs1477073298 0.3500 None gnomAD-2.1.1 3.19E-05
7246 17 S/F 26 rs1477073298 0.3500 None gnomAD-3.1.2 1.32E-05
7246 17 S/F 26 rs1477073298 0.3500 None gnomAD-4.0.0 3.84442E-06
7247 18 I/L 28 None 0.1680 None gnomAD-4.0.0 6.84337E-07
7247 18 I/T 28 None 0.1680 None gnomAD-4.0.0 4.77582E-06
7247 18 I/V 28 None 0.1680 None gnomAD-4.0.0 6.84337E-07
7248 19 I/T 29 None 0.5617 None gnomAD-4.0.0 1.20032E-06
7250 21 E/G 31 rs758430575 0.4210 None gnomAD-2.1.1 4.04E-06
7250 21 E/G 31 rs758430575 0.4210 None gnomAD-4.0.0 1.59181E-06
7251 22 S/I 33 rs1387731794 0.0902 None gnomAD-2.1.1 4.04E-06
7251 22 S/I 33 rs1387731794 0.0902 None gnomAD-4.0.0 1.59182E-06
7252 23 T/I 34 rs375714080 0.2016 None gnomAD-4.0.0 1.0949E-05
7254 25 T/A 38 rs1230527204 0.5934 None gnomAD-3.1.2 6.57E-06
7254 25 T/A 38 rs1230527204 0.5934 None gnomAD-4.0.0 3.09882E-06
7255 26 G/A 40 None 0.3876 None gnomAD-4.0.0 1.36861E-06
7255 26 G/V 40 rs1429557332 0.3876 None gnomAD-2.1.1 4.04E-06
7255 26 G/V 40 rs1429557332 0.3876 None gnomAD-3.1.2 6.57E-06
7255 26 G/V 40 rs1429557332 0.3876 None gnomAD-4.0.0 2.47917E-06
7256 27 T/I 41 None 0.8395 None gnomAD-4.0.0 1.20032E-06
7258 29 P/S 43 rs761911665 0.7660 None gnomAD-2.1.1 4.04E-06
7258 29 P/S 43 rs761911665 0.7660 None gnomAD-4.0.0 1.5918E-06
7259 30 I/M 44 rs727505220 0.2044 None gnomAD-2.1.1 4.04E-06
7259 30 I/M 44 rs727505220 0.2044 None gnomAD-4.0.0 6.84303E-07
7260 31 S/F 45 rs187925021 0.4000 None gnomAD-4.0.0 6.84306E-07
7260 31 S/Y 45 rs187925021 0.4000 None gnomAD-2.1.1 3.61452E-03
7260 31 S/Y 45 rs187925021 0.4000 None gnomAD-3.1.2 2.01812E-03
7260 31 S/Y 45 rs187925021 0.4000 None 1000 genomes 8.1869E-03
7260 31 S/Y 45 rs187925021 0.4000 None gnomAD-4.0.0 1.98565E-03
7262 33 T/A 47 None 0.3977 None gnomAD-4.0.0 3.18385E-06
7262 33 T/S 47 rs200954184 0.3977 None gnomAD-2.1.1 6.09E-05
7262 33 T/S 47 rs200954184 0.3977 None gnomAD-3.1.2 3.95E-05
7262 33 T/S 47 rs200954184 0.3977 None gnomAD-4.0.0 3.90515E-05
7263 34 W/C 48 rs377544260 0.1460 None gnomAD-2.1.1 1.43E-05
7263 34 W/C 48 rs377544260 0.1460 None gnomAD-3.1.2 6.58E-05
7263 34 W/C 48 rs377544260 0.1460 None gnomAD-4.0.0 8.67755E-06
7263 34 W/G 48 None 0.1460 None gnomAD-4.0.0 1.36864E-06
7264 35 K/E 49 None 0.2150 None gnomAD-4.0.0 6.84315E-07
7264 35 K/Q 49 rs776072028 0.2150 None gnomAD-2.1.1 1.07E-05
7264 35 K/Q 49 rs776072028 0.2150 None gnomAD-3.1.2 1.97E-05
7264 35 K/Q 49 rs776072028 0.2150 None gnomAD-4.0.0 1.23958E-05
7267 38 G/D 52 rs375627540 0.3614 None gnomAD-2.1.1 6.15821E-04
7267 38 G/D 52 rs375627540 0.3614 None gnomAD-3.1.2 2.6304E-04
7267 38 G/D 52 rs375627540 0.3614 None 1000 genomes 1.99681E-03
7267 38 G/D 52 rs375627540 0.3614 None gnomAD-4.0.0 3.51419E-04
7267 38 G/S 52 rs772450876 0.3614 None gnomAD-2.1.1 4.03E-06
7267 38 G/S 52 rs772450876 0.3614 None gnomAD-4.0.0 3.1841E-06
7267 38 G/V 52 None 0.3614 None gnomAD-4.0.0 6.84334E-07
7269 40 N/K 56 rs78990961 0.6550 None gnomAD-2.1.1 8.07E-06
7269 40 N/K 56 rs78990961 0.6550 None gnomAD-4.0.0 6.36795E-06
7270 41 I/K 58 None 0.2026 None gnomAD-4.0.0 6.84338E-07
7270 41 I/T 58 rs771364084 0.2026 None gnomAD-2.1.1 4.03E-06
7270 41 I/T 58 rs771364084 0.2026 None gnomAD-3.1.2 1.31E-05
7270 41 I/T 58 rs771364084 0.2026 None gnomAD-4.0.0 2.47909E-06
7270 41 I/V 58 rs774554379 0.2026 None gnomAD-4.0.0 1.59197E-06
7271 42 T/A 59 None 0.7573 None gnomAD-4.0.0 3.3609E-05
7272 43 T/A 70 rs747710632 0.6133 None gnomAD-2.1.1 8.07E-06
7272 43 T/A 70 rs747710632 0.6133 None gnomAD-4.0.0 6.36776E-06
7272 43 T/S 70 None 0.6133 None gnomAD-4.0.0 1.59194E-06
7273 44 S/F 73 rs768091794 0.3379 None gnomAD-2.1.1 4.03E-06
7273 44 S/F 73 rs768091794 0.3379 None gnomAD-4.0.0 6.36791E-06
7274 45 E/G 102 None 1.1122 None gnomAD-4.0.0 4.80129E-06
7276 47 C/G 121 None 0.1953 None gnomAD-4.0.0 6.84332E-07
7276 47 C/S 121 rs1362677027 0.1953 None gnomAD-3.1.2 6.58E-06
7276 47 C/S 121 rs1362677027 0.1953 None gnomAD-4.0.0 2.47934E-06
7276 47 C/Y 121 None 0.1953 None gnomAD-4.0.0 5.47471E-06
7277 48 N/D 122 rs758247611 0.5237 None gnomAD-2.1.1 1.07E-05
7277 48 N/D 122 rs758247611 0.5237 None gnomAD-3.1.2 2.63E-05
7277 48 N/D 122 rs758247611 0.5237 None gnomAD-4.0.0 4.95831E-06
7278 49 I/K 123 rs766571996 0.2330 None gnomAD-2.1.1 8.07E-06
7278 49 I/K 123 rs766571996 0.2330 None gnomAD-3.1.2 6.58E-06
7278 49 I/K 123 rs766571996 0.2330 None gnomAD-4.0.0 1.67353E-05
7278 49 I/V 123 None 0.2330 None gnomAD-4.0.0 1.59194E-06
7279 50 V/D 125 None 0.5192 None gnomAD-4.0.0 1.59188E-06
7281 52 T/A 130 rs1482166056 0.3729 None gnomAD-2.1.1 8.06E-06
7281 52 T/A 130 rs1482166056 0.3729 None gnomAD-4.0.0 2.73727E-06
7281 52 T/R 130 rs2078711757 0.3729 None gnomAD-3.1.2 6.58E-06
7281 52 T/R 130 rs2078711757 0.3729 None gnomAD-4.0.0 6.57869E-06
7282 53 E/D 131 None 0.7978 None gnomAD-4.0.0 1.20032E-06
7282 53 E/G 131 rs757098573 0.7978 None gnomAD-2.1.1 4.03E-06
7282 53 E/K 131 rs778532757 0.7978 None gnomAD-2.1.1 1.07E-05
7282 53 E/K 131 rs778532757 0.7978 None gnomAD-3.1.2 3.29E-05
7282 53 E/K 131 rs778532757 0.7978 None gnomAD-4.0.0 2.97507E-05
7284 55 T/I 135 None 0.2979 None gnomAD-4.0.0 5.47474E-06
7285 56 C/Y 136 rs2154302642 0.0890 None gnomAD-4.0.0 3.18396E-06
7286 57 I/V 137 rs1434099856 0.2882 None gnomAD-3.1.2 6.57E-06
7286 57 I/V 137 rs1434099856 0.2882 None gnomAD-4.0.0 2.56307E-06
7287 58 L/V 138 rs754054875 0.0854 None gnomAD-2.1.1 7.15E-06
7287 58 L/V 138 rs754054875 0.0854 None gnomAD-3.1.2 1.97E-05
7287 58 L/V 138 rs754054875 0.0854 None gnomAD-4.0.0 3.09914E-06
7289 60 I/M 140 None 0.1290 None gnomAD-4.0.0 6.84322E-07
7290 61 L/M 141 None 0.5251 None gnomAD-4.0.0 6.84321E-07
7291 62 N/K 143 None 0.7238 None gnomAD-4.0.0 1.20032E-06
7292 63 S/N 144 None 0.1297 None gnomAD-4.0.0 1.20032E-06
7293 64 T/P 145 rs764415612 0.3521 None gnomAD-2.1.1 4.03E-06
7293 64 T/P 145 rs764415612 0.3521 None gnomAD-4.0.0 1.3686E-06
7294 65 K/E 146 rs1333823103 0.8391 None gnomAD-2.1.1 1.21E-05
7294 65 K/E 146 rs1333823103 0.8391 None gnomAD-4.0.0 4.77528E-06
7295 66 R/G 148 rs752809738 0.8741 None gnomAD-2.1.1 4.03E-06
7295 66 R/G 148 rs752809738 0.8741 None gnomAD-4.0.0 1.59175E-06
7295 66 R/I 148 None 0.8741 None gnomAD-4.0.0 1.59175E-06
7295 66 R/S 148 rs1411254237 0.8741 None gnomAD-2.1.1 6.37E-05
7295 66 R/S 148 rs1411254237 0.8741 None gnomAD-3.1.2 1.31E-05
7295 66 R/S 148 rs1411254237 0.8741 None gnomAD-4.0.0 3.09885E-06
7296 67 D/E 149 rs767681708 0.2126 None gnomAD-2.1.1 4.03E-06
7296 67 D/E 149 rs767681708 0.2126 None gnomAD-4.0.0 8.89577E-06
7296 67 D/H 149 rs1391650834 0.2126 None gnomAD-2.1.1 4.03E-06
7296 67 D/H 149 rs1391650834 0.2126 None gnomAD-4.0.0 1.59174E-06
7297 68 A/G 151 None 0.2500 None gnomAD-4.0.0 6.84293E-07
7297 68 A/S 151 rs760654464 0.2500 None gnomAD-2.1.1 4.03E-06
7297 68 A/S 151 rs760654464 0.2500 None gnomAD-3.1.2 6.57E-06
7297 68 A/S 151 rs760654464 0.2500 None gnomAD-4.0.0 8.67678E-06
7297 68 A/T 151 rs760654464 0.2500 None gnomAD-3.1.2 6.57E-06
7297 68 A/T 151 rs760654464 0.2500 None gnomAD-4.0.0 6.57272E-06
7298 69 G/R 152 rs878854292 0.1815 None gnomAD-2.1.1 8.05E-06
7298 69 G/R 152 rs878854292 0.1815 None gnomAD-3.1.2 1.31E-05
7298 69 G/R 152 rs878854292 0.1815 None gnomAD-4.0.0 4.33837E-06
7298 69 G/W 152 None 0.1815 None gnomAD-4.0.0 6.84291E-07
7299 70 Q/P 153 None 0.6932 None gnomAD-4.0.0 6.84291E-07
7299 70 Q/R 153 None 0.6932 None gnomAD-4.0.0 1.36858E-06
7303 74 E/G 157 None 0.2166 None gnomAD-4.0.0 3.18351E-06
7303 74 E/K 157 rs774950387 0.2166 None gnomAD-2.1.1 1.21E-05
7303 74 E/K 157 rs774950387 0.2166 None gnomAD-3.1.2 2.63E-05
7303 74 E/K 157 rs774950387 0.2166 None gnomAD-4.0.0 1.54945E-05
7303 74 E/Q 157 rs774950387 0.2166 None gnomAD-4.0.0 6.84304E-07
7304 75 I/T 158 rs766599708 0.0524 None gnomAD-2.1.1 1.21E-05
7304 75 I/T 158 rs766599708 0.0524 None gnomAD-4.0.0 4.10583E-06
7305 76 E/A 159 rs1553911785 0.3763 None gnomAD-4.0.0 6.36687E-06
7305 76 E/D 159 rs763316110 0.3763 None gnomAD-2.1.1 4.03E-06
7305 76 E/D 159 rs763316110 0.3763 None gnomAD-3.1.2 2.63E-05
7305 76 E/D 159 rs763316110 0.3763 None gnomAD-4.0.0 6.40681E-06
7306 77 N/Y 161 rs773636793 0.1873 None gnomAD-2.1.1 4.03E-06
7306 77 N/Y 161 rs773636793 0.1873 None gnomAD-3.1.2 2.63E-05
7306 77 N/Y 161 rs773636793 0.1873 None gnomAD-4.0.0 6.40695E-06
7310 81 R/M 165 None 0.3963 None gnomAD-4.0.0 1.59175E-06
7310 81 R/S 165 None 0.3963 None gnomAD-4.0.0 1.59178E-06
7311 82 D/E 166 rs746715340 0.1589 None gnomAD-2.1.1 4.03E-06
7311 82 D/E 166 rs746715340 0.1589 None gnomAD-4.0.0 1.59181E-06
7311 82 D/N 166 rs1205648849 0.1589 None gnomAD-2.1.1 4.03E-06
7313 84 C/Y 169 None 0.0974 None gnomAD-4.0.0 1.20032E-06
7314 85 G/R 171 rs2078695205 0.3378 None gnomAD-3.1.2 6.57E-06
7314 85 G/R 171 rs2078695205 0.3378 None gnomAD-4.0.0 2.56307E-06
7315 86 A/G 172 rs771646076 0.1414 None gnomAD-3.1.2 6.57E-06
7315 86 A/G 172 rs771646076 0.1414 None gnomAD-4.0.0 2.47921E-06
7315 86 A/V 172 rs771646076 0.1414 None gnomAD-2.1.1 1.21E-05
7315 86 A/V 172 rs771646076 0.1414 None gnomAD-3.1.2 6.57E-06
7315 86 A/V 172 rs771646076 0.1414 None gnomAD-4.0.0 6.19802E-06
7316 87 L/R 173 rs745745237 0.5252 None gnomAD-2.1.1 4.03E-06
7316 87 L/R 173 rs745745237 0.5252 None gnomAD-4.0.0 6.36799E-06
7316 87 L/V 173 None 0.5252 None gnomAD-4.0.0 6.84339E-07
7318 89 S/P 177 None 0.3271 None gnomAD-4.0.0 1.20032E-06