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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 T
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

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7230 1 A/S 1 rs1458297684 0.1461 None gnomAD-4.0.0 6.00161E-06
7230 1 A/V 1 rs761223583 0.1461 None gnomAD-2.1.1 5.29E-05
7230 1 A/V 1 rs761223583 0.1461 None gnomAD-3.1.2 1.97E-05
7230 1 A/V 1 rs761223583 0.1461 None gnomAD-4.0.0 2.73078E-05
7231 2 A/E 2 None 0.3370 None gnomAD-4.0.0 1.20032E-06
7231 2 A/T 2 rs1486491329 0.3370 None gnomAD-2.1.1 4.07E-06
7231 2 A/T 2 rs1486491329 0.3370 None gnomAD-4.0.0 2.74132E-06
7232 3 F/L 3 None 0.1343 None gnomAD-4.0.0 1.20032E-06
7232 3 F/V 3 rs776163887 0.1343 None gnomAD-2.1.1 4.88E-05
7232 3 F/V 3 rs776163887 0.1343 None gnomAD-3.1.2 2.63E-05
7232 3 F/V 3 rs776163887 0.1343 None gnomAD-4.0.0 2.10943E-05
7233 4 L/F 4 rs370679926 0.8384 None gnomAD-4.0.0 1.37052E-06
7233 4 L/M 4 None 0.8384 None gnomAD-4.0.0 1.20032E-06
7234 5 K/E 5 rs1243074128 0.4066 None gnomAD-2.1.1 4.07E-06
7234 5 K/E 5 rs1243074128 0.4066 None gnomAD-4.0.0 3.19281E-06
7234 5 K/R 5 rs2078749547 0.4066 None gnomAD-4.0.0 1.59662E-06
7235 6 R/G 7 None 0.3671 None gnomAD-4.0.0 1.20032E-06
7235 6 R/S 7 rs772506057 0.3671 None gnomAD-2.1.1 4.06E-06
7235 6 R/S 7 rs772506057 0.3671 None gnomAD-4.0.0 1.59434E-06
7236 7 L/I 8 None 0.2009 None gnomAD-4.0.0 6.16289E-06
7236 7 L/S 8 rs746222807 0.2009 None gnomAD-2.1.1 2.16E-05
7236 7 L/S 8 rs746222807 0.2009 None gnomAD-3.1.2 3.94E-05
7236 7 L/S 8 rs746222807 0.2009 None gnomAD-4.0.0 9.30223E-06
7237 8 S/C 9 None 0.6479 None gnomAD-4.0.0 1.36945E-06
7237 8 S/N 9 rs769315703 0.6479 None gnomAD-2.1.1 4.06E-06
7237 8 S/R 9 None 0.6479 None gnomAD-4.0.0 1.59411E-06
7237 8 S/T 9 rs769315703 0.6479 None gnomAD-2.1.1 4.06E-06
7237 8 S/T 9 rs769315703 0.6479 None gnomAD-3.1.2 6.57E-06
7237 8 S/T 9 rs769315703 0.6479 None gnomAD-4.0.0 2.02999E-06
7238 9 D/E 11 rs2078746720 0.6067 None gnomAD-4.0.0 1.3691E-06
7238 9 D/H 11 rs747881141 0.6067 None gnomAD-3.1.2 6.57E-06
7238 9 D/H 11 rs747881141 0.6067 None gnomAD-4.0.0 6.57402E-06
7238 9 D/N 11 rs747881141 0.6067 None gnomAD-2.1.1 1.44E-05
7238 9 D/N 11 rs747881141 0.6067 None gnomAD-3.1.2 1.97E-05
7238 9 D/N 11 rs747881141 0.6067 None gnomAD-4.0.0 6.20152E-06
7238 9 D/V 11 rs780646514 0.6067 None gnomAD-2.1.1 3.65E-05
7238 9 D/V 11 rs780646514 0.6067 None gnomAD-4.0.0 1.27536E-05
7239 10 H/R 13 None 0.4612 None gnomAD-4.0.0 3.1845E-06
7240 11 S/F 14 None 0.5588 None gnomAD-4.0.0 1.59228E-06
7241 12 V/A 16 rs1292676739 0.2023 None gnomAD-2.1.1 4.05E-06
7241 12 V/A 16 rs1292676739 0.2023 None gnomAD-4.0.0 1.59215E-06
7241 12 V/I 16 rs367854582 0.2023 None gnomAD-2.1.1 6.11E-05
7241 12 V/I 16 rs367854582 0.2023 None gnomAD-3.1.2 1.90639E-04
7241 12 V/I 16 rs367854582 0.2023 None 1000 genomes 1.99681E-04
7241 12 V/I 16 rs367854582 0.2023 None gnomAD-4.0.0 3.47095E-05
7241 12 V/L 16 None 0.2023 None gnomAD-4.0.0 6.8439E-07
7243 14 P/L 23 rs193060723 0.5403 None gnomAD-2.1.1 8.1E-06
7243 14 P/L 23 rs193060723 0.5403 None gnomAD-3.1.2 1.97E-05
7243 14 P/L 23 rs193060723 0.5403 None 1000 genomes 3.99361E-04
7243 14 P/L 23 rs193060723 0.5403 None gnomAD-4.0.0 8.67717E-06
7243 14 P/S 23 None 0.5403 None gnomAD-4.0.0 1.59201E-06
7244 15 G/E 24 None 0.2871 None gnomAD-4.0.0 5.47479E-06
7245 16 K/T 25 None 0.6185 None gnomAD-4.0.0 1.20032E-06
7246 17 S/F 26 rs1477073298 0.3382 None gnomAD-2.1.1 3.19E-05
7246 17 S/F 26 rs1477073298 0.3382 None gnomAD-3.1.2 1.32E-05
7246 17 S/F 26 rs1477073298 0.3382 None gnomAD-4.0.0 3.84442E-06
7247 18 I/L 28 None 0.1318 None gnomAD-4.0.0 6.84337E-07
7247 18 I/T 28 None 0.1318 None gnomAD-4.0.0 4.77582E-06
7247 18 I/V 28 None 0.1318 None gnomAD-4.0.0 6.84337E-07
7248 19 I/T 29 None 0.4939 None gnomAD-4.0.0 1.20032E-06
7250 21 E/G 31 rs758430575 0.4074 None gnomAD-2.1.1 4.04E-06
7250 21 E/G 31 rs758430575 0.4074 None gnomAD-4.0.0 1.59181E-06
7251 22 S/I 33 rs1387731794 0.0925 None gnomAD-2.1.1 4.04E-06
7251 22 S/I 33 rs1387731794 0.0925 None gnomAD-4.0.0 1.59182E-06
7252 23 T/I 34 rs375714080 0.2088 None gnomAD-4.0.0 1.0949E-05
7254 25 T/A 38 rs1230527204 0.6236 None gnomAD-3.1.2 6.57E-06
7254 25 T/A 38 rs1230527204 0.6236 None gnomAD-4.0.0 3.09882E-06
7255 26 G/A 40 None 0.4009 None gnomAD-4.0.0 1.36861E-06
7255 26 G/V 40 rs1429557332 0.4009 None gnomAD-2.1.1 4.04E-06
7255 26 G/V 40 rs1429557332 0.4009 None gnomAD-3.1.2 6.57E-06
7255 26 G/V 40 rs1429557332 0.4009 None gnomAD-4.0.0 2.47917E-06
7256 27 T/I 41 None 0.7959 None gnomAD-4.0.0 1.20032E-06
7258 29 P/S 43 rs761911665 0.8020 None gnomAD-2.1.1 4.04E-06
7258 29 P/S 43 rs761911665 0.8020 None gnomAD-4.0.0 1.5918E-06
7259 30 I/M 44 rs727505220 0.1698 None gnomAD-2.1.1 4.04E-06
7259 30 I/M 44 rs727505220 0.1698 None gnomAD-4.0.0 6.84303E-07
7260 31 S/F 45 rs187925021 0.3675 None gnomAD-4.0.0 6.84306E-07
7260 31 S/Y 45 rs187925021 0.3675 None gnomAD-2.1.1 3.61452E-03
7260 31 S/Y 45 rs187925021 0.3675 None gnomAD-3.1.2 2.01812E-03
7260 31 S/Y 45 rs187925021 0.3675 None 1000 genomes 8.1869E-03
7260 31 S/Y 45 rs187925021 0.3675 None gnomAD-4.0.0 1.98565E-03
7262 33 T/A 47 None 0.3762 None gnomAD-4.0.0 3.18385E-06
7262 33 T/S 47 rs200954184 0.3762 None gnomAD-2.1.1 6.09E-05
7262 33 T/S 47 rs200954184 0.3762 None gnomAD-3.1.2 3.95E-05
7262 33 T/S 47 rs200954184 0.3762 None gnomAD-4.0.0 3.90515E-05
7263 34 W/C 48 rs377544260 0.1413 None gnomAD-2.1.1 1.43E-05
7263 34 W/C 48 rs377544260 0.1413 None gnomAD-3.1.2 6.58E-05
7263 34 W/C 48 rs377544260 0.1413 None gnomAD-4.0.0 8.67755E-06
7263 34 W/G 48 None 0.1413 None gnomAD-4.0.0 1.36864E-06
7264 35 K/E 49 None 0.2628 None gnomAD-4.0.0 6.84315E-07
7264 35 K/Q 49 rs776072028 0.2628 None gnomAD-2.1.1 1.07E-05
7264 35 K/Q 49 rs776072028 0.2628 None gnomAD-3.1.2 1.97E-05
7264 35 K/Q 49 rs776072028 0.2628 None gnomAD-4.0.0 1.23958E-05
7267 38 G/D 52 rs375627540 0.3489 None gnomAD-2.1.1 6.15821E-04
7267 38 G/D 52 rs375627540 0.3489 None gnomAD-3.1.2 2.6304E-04
7267 38 G/D 52 rs375627540 0.3489 None 1000 genomes 1.99681E-03
7267 38 G/D 52 rs375627540 0.3489 None gnomAD-4.0.0 3.51419E-04
7267 38 G/S 52 rs772450876 0.3489 None gnomAD-2.1.1 4.03E-06
7267 38 G/S 52 rs772450876 0.3489 None gnomAD-4.0.0 3.1841E-06
7267 38 G/V 52 None 0.3489 None gnomAD-4.0.0 6.84334E-07
7269 40 N/K 56 rs78990961 0.6694 None gnomAD-2.1.1 8.07E-06
7269 40 N/K 56 rs78990961 0.6694 None gnomAD-4.0.0 6.36795E-06
7270 41 I/K 58 None 0.2127 None gnomAD-4.0.0 6.84338E-07
7270 41 I/T 58 rs771364084 0.2127 None gnomAD-2.1.1 4.03E-06
7270 41 I/T 58 rs771364084 0.2127 None gnomAD-3.1.2 1.31E-05
7270 41 I/T 58 rs771364084 0.2127 None gnomAD-4.0.0 2.47909E-06
7270 41 I/V 58 rs774554379 0.2127 None gnomAD-4.0.0 1.59197E-06
7271 42 T/A 59 None 0.7564 None gnomAD-4.0.0 3.3609E-05
7272 43 T/A 70 rs747710632 0.6206 None gnomAD-2.1.1 8.07E-06
7272 43 T/A 70 rs747710632 0.6206 None gnomAD-4.0.0 6.36776E-06
7272 43 T/S 70 None 0.6206 None gnomAD-4.0.0 1.59194E-06
7273 44 S/F 73 rs768091794 0.3170 None gnomAD-2.1.1 4.03E-06
7273 44 S/F 73 rs768091794 0.3170 None gnomAD-4.0.0 6.36791E-06
7274 45 E/G 102 None 1.0785 None gnomAD-4.0.0 4.80129E-06
7276 47 C/G 121 None 0.1876 None gnomAD-4.0.0 6.84332E-07
7276 47 C/S 121 rs1362677027 0.1876 None gnomAD-3.1.2 6.58E-06
7276 47 C/S 121 rs1362677027 0.1876 None gnomAD-4.0.0 2.47934E-06
7276 47 C/Y 121 None 0.1876 None gnomAD-4.0.0 5.47471E-06
7277 48 N/D 122 rs758247611 0.4754 None gnomAD-2.1.1 1.07E-05
7277 48 N/D 122 rs758247611 0.4754 None gnomAD-3.1.2 2.63E-05
7277 48 N/D 122 rs758247611 0.4754 None gnomAD-4.0.0 4.95831E-06
7278 49 I/K 123 rs766571996 0.2445 None gnomAD-2.1.1 8.07E-06
7278 49 I/K 123 rs766571996 0.2445 None gnomAD-3.1.2 6.58E-06
7278 49 I/K 123 rs766571996 0.2445 None gnomAD-4.0.0 1.67353E-05
7278 49 I/V 123 None 0.2445 None gnomAD-4.0.0 1.59194E-06
7279 50 V/D 125 None 0.5526 None gnomAD-4.0.0 1.59188E-06
7281 52 T/A 130 rs1482166056 0.3342 None gnomAD-2.1.1 8.06E-06
7281 52 T/A 130 rs1482166056 0.3342 None gnomAD-4.0.0 2.73727E-06
7281 52 T/R 130 rs2078711757 0.3342 None gnomAD-3.1.2 6.58E-06
7281 52 T/R 130 rs2078711757 0.3342 None gnomAD-4.0.0 6.57869E-06
7282 53 E/D 131 None 0.7107 None gnomAD-4.0.0 1.20032E-06
7282 53 E/G 131 rs757098573 0.7107 None gnomAD-2.1.1 4.03E-06
7282 53 E/K 131 rs778532757 0.7107 None gnomAD-2.1.1 1.07E-05
7282 53 E/K 131 rs778532757 0.7107 None gnomAD-3.1.2 3.29E-05
7282 53 E/K 131 rs778532757 0.7107 None gnomAD-4.0.0 2.97507E-05
7284 55 T/I 135 None 0.2870 None gnomAD-4.0.0 5.47474E-06
7285 56 C/Y 136 rs2154302642 0.0778 None gnomAD-4.0.0 3.18396E-06
7286 57 I/V 137 rs1434099856 0.2801 None gnomAD-3.1.2 6.57E-06
7286 57 I/V 137 rs1434099856 0.2801 None gnomAD-4.0.0 2.56307E-06
7287 58 L/V 138 rs754054875 0.0884 None gnomAD-2.1.1 7.15E-06
7287 58 L/V 138 rs754054875 0.0884 None gnomAD-3.1.2 1.97E-05
7287 58 L/V 138 rs754054875 0.0884 None gnomAD-4.0.0 3.09914E-06
7289 60 I/M 140 None 0.1254 None gnomAD-4.0.0 6.84322E-07
7290 61 L/M 141 None 0.4405 None gnomAD-4.0.0 6.84321E-07
7291 62 N/K 143 None 0.7889 None gnomAD-4.0.0 1.20032E-06
7292 63 S/N 144 None 0.1168 None gnomAD-4.0.0 1.20032E-06
7293 64 T/P 145 rs764415612 0.3527 None gnomAD-2.1.1 4.03E-06
7293 64 T/P 145 rs764415612 0.3527 None gnomAD-4.0.0 1.3686E-06
7294 65 K/E 146 rs1333823103 0.8338 None gnomAD-2.1.1 1.21E-05
7294 65 K/E 146 rs1333823103 0.8338 None gnomAD-4.0.0 4.77528E-06
7295 66 R/G 148 rs752809738 0.8805 None gnomAD-2.1.1 4.03E-06
7295 66 R/G 148 rs752809738 0.8805 None gnomAD-4.0.0 1.59175E-06
7295 66 R/I 148 None 0.8805 None gnomAD-4.0.0 1.59175E-06
7295 66 R/S 148 rs1411254237 0.8805 None gnomAD-2.1.1 6.37E-05
7295 66 R/S 148 rs1411254237 0.8805 None gnomAD-3.1.2 1.31E-05
7295 66 R/S 148 rs1411254237 0.8805 None gnomAD-4.0.0 3.09885E-06
7296 67 D/E 149 rs767681708 0.1939 None gnomAD-2.1.1 4.03E-06
7296 67 D/E 149 rs767681708 0.1939 None gnomAD-4.0.0 8.89577E-06
7296 67 D/H 149 rs1391650834 0.1939 None gnomAD-2.1.1 4.03E-06
7296 67 D/H 149 rs1391650834 0.1939 None gnomAD-4.0.0 1.59174E-06
7297 68 A/G 151 None 0.2253 None gnomAD-4.0.0 6.84293E-07
7297 68 A/S 151 rs760654464 0.2253 None gnomAD-2.1.1 4.03E-06
7297 68 A/S 151 rs760654464 0.2253 None gnomAD-3.1.2 6.57E-06
7297 68 A/S 151 rs760654464 0.2253 None gnomAD-4.0.0 8.67678E-06
7297 68 A/T 151 rs760654464 0.2253 None gnomAD-3.1.2 6.57E-06
7297 68 A/T 151 rs760654464 0.2253 None gnomAD-4.0.0 6.57272E-06
7298 69 G/R 152 rs878854292 0.1608 None gnomAD-2.1.1 8.05E-06
7298 69 G/R 152 rs878854292 0.1608 None gnomAD-3.1.2 1.31E-05
7298 69 G/R 152 rs878854292 0.1608 None gnomAD-4.0.0 4.33837E-06
7298 69 G/W 152 None 0.1608 None gnomAD-4.0.0 6.84291E-07
7299 70 Q/P 153 None 0.2968 None gnomAD-4.0.0 6.84291E-07
7299 70 Q/R 153 None 0.2968 None gnomAD-4.0.0 1.36858E-06
7303 74 E/G 157 None 0.2503 None gnomAD-4.0.0 3.18351E-06
7303 74 E/K 157 rs774950387 0.2503 None gnomAD-2.1.1 1.21E-05
7303 74 E/K 157 rs774950387 0.2503 None gnomAD-3.1.2 2.63E-05
7303 74 E/K 157 rs774950387 0.2503 None gnomAD-4.0.0 1.54945E-05
7303 74 E/Q 157 rs774950387 0.2503 None gnomAD-4.0.0 6.84304E-07
7304 75 I/T 158 rs766599708 0.0550 None gnomAD-2.1.1 1.21E-05
7304 75 I/T 158 rs766599708 0.0550 None gnomAD-4.0.0 4.10583E-06
7305 76 E/A 159 rs1553911785 0.4579 None gnomAD-4.0.0 6.36687E-06
7305 76 E/D 159 rs763316110 0.4579 None gnomAD-2.1.1 4.03E-06
7305 76 E/D 159 rs763316110 0.4579 None gnomAD-3.1.2 2.63E-05
7305 76 E/D 159 rs763316110 0.4579 None gnomAD-4.0.0 6.40681E-06
7306 77 N/Y 161 rs773636793 0.1954 None gnomAD-2.1.1 4.03E-06
7306 77 N/Y 161 rs773636793 0.1954 None gnomAD-3.1.2 2.63E-05
7306 77 N/Y 161 rs773636793 0.1954 None gnomAD-4.0.0 6.40695E-06
7310 81 R/M 165 None 0.5911 None gnomAD-4.0.0 1.59175E-06
7310 81 R/S 165 None 0.5911 None gnomAD-4.0.0 1.59178E-06
7311 82 D/E 166 rs746715340 0.1720 None gnomAD-2.1.1 4.03E-06
7311 82 D/E 166 rs746715340 0.1720 None gnomAD-4.0.0 1.59181E-06
7311 82 D/N 166 rs1205648849 0.1720 None gnomAD-2.1.1 4.03E-06
7313 84 C/Y 169 None 0.0850 None gnomAD-4.0.0 1.20032E-06
7314 85 G/R 171 rs2078695205 0.3233 None gnomAD-3.1.2 6.57E-06
7314 85 G/R 171 rs2078695205 0.3233 None gnomAD-4.0.0 2.56307E-06
7315 86 A/G 172 rs771646076 0.1079 None gnomAD-3.1.2 6.57E-06
7315 86 A/G 172 rs771646076 0.1079 None gnomAD-4.0.0 2.47921E-06
7315 86 A/V 172 rs771646076 0.1079 None gnomAD-2.1.1 1.21E-05
7315 86 A/V 172 rs771646076 0.1079 None gnomAD-3.1.2 6.57E-06
7315 86 A/V 172 rs771646076 0.1079 None gnomAD-4.0.0 6.19802E-06
7316 87 L/R 173 rs745745237 0.4497 None gnomAD-2.1.1 4.03E-06
7316 87 L/R 173 rs745745237 0.4497 None gnomAD-4.0.0 6.36799E-06
7316 87 L/V 173 None 0.4497 None gnomAD-4.0.0 6.84339E-07
7318 89 S/P 177 None 0.3121 None gnomAD-4.0.0 1.20032E-06