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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
23241 2 P/S 2 None 0.1396 None gnomAD-4.0.0 1.69731E-06
23242 3 G/A 3 None 0.2417 None gnomAD-4.0.0 2.1109E-06
23242 3 G/E 3 rs1292885710 0.2417 None gnomAD-2.1.1 3.19E-05
23242 3 G/E 3 rs1292885710 0.2417 None gnomAD-3.1.2 6.58E-06
23242 3 G/E 3 rs1292885710 0.2417 None gnomAD-4.0.0 1.27133E-06
23242 3 G/R 3 rs1312382242 0.2417 None gnomAD-2.1.1 9.49E-06
23242 3 G/R 3 rs1312382242 0.2417 None gnomAD-4.0.0 7.03475E-07
23243 4 P/S 4 rs1221599663 0.4321 None gnomAD-2.1.1 4.71E-06
23243 4 P/S 4 rs1221599663 0.4321 None gnomAD-4.0.0 3.39479E-06
23244 5 P/L 5 rs879056292 0.1538 None gnomAD-2.1.1 3.19E-05
23244 5 P/L 5 rs879056292 0.1538 None gnomAD-3.1.2 6.58E-06
23244 5 P/L 5 rs879056292 0.1538 None gnomAD-4.0.0 1.9125E-06
23247 8 P/L 9 rs115658240 0.3006 None gnomAD-2.1.1 2.99485E-03
23247 8 P/L 9 rs115658240 0.3006 None gnomAD-3.1.2 7.64665E-03
23247 8 P/L 9 rs115658240 0.3006 None 1000 genomes 7.78754E-03
23247 8 P/L 9 rs115658240 0.3006 None gnomAD-4.0.0 1.48008E-03
23248 9 H/P 11 rs1423241119 0.3570 None gnomAD-3.1.2 6.58E-06
23248 9 H/P 11 rs1423241119 0.3570 None gnomAD-4.0.0 1.91718E-06
23248 9 H/Q 11 rs774642251 0.3570 None gnomAD-2.1.1 1.48E-05
23248 9 H/Q 11 rs774642251 0.3570 None gnomAD-4.0.0 2.12342E-06
23248 9 H/R 11 None 0.3570 None gnomAD-4.0.0 7.07834E-07
23248 9 H/Y 11 rs1374089814 0.3570 None gnomAD-2.1.1 1.7E-05
23248 9 H/Y 11 rs1374089814 0.3570 None gnomAD-3.1.2 2.63E-05
23248 9 H/Y 11 rs1374089814 0.3570 None gnomAD-4.0.0 6.83062E-06
23249 10 V/F 12 None 0.3080 None gnomAD-4.0.0 1.72789E-06
23250 11 T/I 13 rs771327436 0.3561 None gnomAD-2.1.1 4.97E-06
23250 11 T/I 13 rs771327436 0.3561 None gnomAD-3.1.2 2.63E-05
23251 12 D/N 14 None 0.4824 None gnomAD-4.0.0 3.47087E-06
23251 12 D/Y 14 None 0.4824 None gnomAD-4.0.0 1.73544E-06
23252 13 T/I 15 None 0.2446 None gnomAD-4.0.0 7.10046E-07
23252 13 T/S 15 rs1710103271 0.2446 None gnomAD-4.0.0 7.10046E-07
23254 15 K/E 17 rs892446768 0.5126 None gnomAD-4.0.0 1.74224E-06
23256 17 S/P 19 rs1710100033 0.1928 None gnomAD-4.0.0 2.84574E-06
23257 18 A/V 20 rs1710097395 0.1149 None gnomAD-4.0.0 1.74597E-06
23258 19 S/F 21 None 0.1828 None gnomAD-4.0.0 7.11426E-07
23258 19 S/P 21 None 0.1828 None gnomAD-4.0.0 3.49355E-06
23258 19 S/Y 21 None 0.1828 None gnomAD-4.0.0 2.8457E-06
23262 23 G/C 25 None 0.1898 None gnomAD-4.0.0 2.84202E-06
23262 23 G/S 25 None 0.1898 None gnomAD-4.0.0 7.10502E-07
23264 25 P/R 27 None 0.2040 None gnomAD-4.0.0 2.12756E-06
23265 26 H/Y 28 rs1265649343 1.1806 None gnomAD-2.1.1 3.19E-05
23265 26 H/Y 28 rs1265649343 1.1806 None gnomAD-3.1.2 6.58E-06
23265 26 H/Y 28 rs1265649343 1.1806 None gnomAD-4.0.0 6.57626E-06
23266 27 Y/S 29 None 0.5888 None gnomAD-4.0.0 1.71684E-06
23267 28 D/H 30 None 0.3591 None gnomAD-4.0.0 1.71681E-06
23268 29 G/V 31 rs1201998813 0.2499 None gnomAD-2.1.1 4.87E-06
23268 29 G/V 31 rs1201998813 0.2499 None gnomAD-4.0.0 1.71243E-06
23269 30 G/E 32 rs750182587 0.4770 None gnomAD-2.1.1 1.95E-05
23269 30 G/E 32 rs750182587 0.4770 None gnomAD-3.1.2 3.29E-05
23269 30 G/E 32 rs750182587 0.4770 None gnomAD-4.0.0 3.05815E-05
23269 30 G/R 32 rs935898140 0.4770 None gnomAD-4.0.0 5.13405E-06
23270 31 L/F 33 rs904477168 0.4331 None gnomAD-3.1.2 6.58E-06
23270 31 L/F 33 rs904477168 0.4331 None gnomAD-4.0.0 6.57523E-06
23270 31 L/I 33 None 0.4331 None gnomAD-4.0.0 2.82019E-06
23271 32 E/G 34 rs779955364 0.8603 None gnomAD-2.1.1 4.82E-06
23271 32 E/G 34 rs779955364 0.8603 None gnomAD-4.0.0 1.40882E-06
23272 33 I/S 35 rs758398301 0.2050 None gnomAD-2.1.1 9.61E-06
23272 33 I/S 35 rs758398301 0.2050 None gnomAD-3.1.2 6.58E-06
23272 33 I/S 35 rs758398301 0.2050 None gnomAD-4.0.0 9.53922E-06
23273 34 T/A 36 rs1233267673 0.3963 None gnomAD-4.0.0 1.70038E-06
23273 34 T/I 36 None 0.3963 None gnomAD-4.0.0 7.03575E-07
23273 34 T/S 36 rs371067787 0.3963 None gnomAD-2.1.1 4.81E-06
23273 34 T/S 36 rs371067787 0.3963 None gnomAD-4.0.0 7.03575E-07
23274 35 G/A 37 rs201043950 0.1076 None gnomAD-2.1.1 4.74E-06
23274 35 G/A 37 rs201043950 0.1076 None gnomAD-4.0.0 7.02499E-07
23274 35 G/D 37 rs201043950 0.1076 None gnomAD-2.1.1 1.20915E-03
23274 35 G/D 37 rs201043950 0.1076 None gnomAD-3.1.2 1.05244E-03
23274 35 G/D 37 rs201043950 0.1076 None 1000 genomes 1.99681E-04
23274 35 G/D 37 rs201043950 0.1076 None gnomAD-4.0.0 1.30678E-03
23274 35 G/S 37 rs786205331 0.1076 None gnomAD-2.1.1 4.74E-06
23274 35 G/S 37 rs786205331 0.1076 None gnomAD-4.0.0 1.69462E-06
23275 36 Y/H 38 rs267599039 0.1335 None gnomAD-3.1.2 1.32E-05
23275 36 Y/H 38 rs267599039 0.1335 None gnomAD-4.0.0 1.31501E-05
23275 36 Y/N 38 rs267599039 0.1335 None gnomAD-2.1.1 4.71E-06
23275 36 Y/N 38 rs267599039 0.1335 None gnomAD-4.0.0 1.68852E-06
23277 38 V/M 40 rs371513781 0.1001 None gnomAD-2.1.1 7.61E-05
23277 38 V/M 40 rs371513781 0.1001 None gnomAD-3.1.2 3.29E-05
23277 38 V/M 40 rs371513781 0.1001 None gnomAD-4.0.0 4.04569E-05
23278 39 E/A 41 None 0.1542 None gnomAD-4.0.0 1.20032E-06
23278 39 E/K 41 None 0.1542 None gnomAD-4.0.0 1.65683E-06
23279 40 H/Q 42 rs752879532 0.1760 None gnomAD-4.0.0 4.15167E-06
23281 42 K/R 44 None 0.2180 None gnomAD-4.0.0 1.62571E-06
23282 43 V/I 50 rs876658079 0.4740 None gnomAD-4.0.0 2.76242E-06
23283 44 G/R 54 None 0.6266 None gnomAD-4.0.0 6.89601E-07
23284 45 D/V 60 rs768131129 0.5396 None gnomAD-2.1.1 4.22E-06
23284 45 D/V 60 rs768131129 0.5396 None gnomAD-4.0.0 4.85197E-06
23285 46 E/G 63 None 1.0762 None gnomAD-4.0.0 7.56972E-06
23285 46 E/K 63 rs376870149 1.0762 None gnomAD-2.1.1 5.93E-05
23285 46 E/K 63 rs376870149 1.0762 None gnomAD-3.1.2 1.97345E-04
23285 46 E/K 63 rs376870149 1.0762 None 1000 genomes 3.99361E-04
23285 46 E/K 63 rs376870149 1.0762 None gnomAD-4.0.0 6.41997E-05
23286 47 A/D 64 rs1465961266 0.5005 None gnomAD-4.0.0 6.87762E-06
23286 47 A/T 64 rs1710048909 0.5005 None gnomAD-4.0.0 4.83852E-06
23286 47 A/V 64 rs1465961266 0.5005 None gnomAD-2.1.1 4.16E-06
23286 47 A/V 64 rs1465961266 0.5005 None gnomAD-4.0.0 6.87762E-07
23287 48 W/S 65 None 0.2833 None gnomAD-4.0.0 1.61185E-06
23288 49 I/K 66 None 0.4378 None gnomAD-4.0.0 6.86314E-06
23288 49 I/M 66 rs368867993 0.4378 None gnomAD-2.1.1 1.45944E-04
23288 49 I/M 66 rs368867993 0.4378 None gnomAD-3.1.2 2.49829E-04
23288 49 I/M 66 rs368867993 0.4378 None 1000 genomes 1.99681E-04
23288 49 I/M 66 rs368867993 0.4378 None gnomAD-4.0.0 1.00045E-04
23288 49 I/R 66 None 0.4378 None gnomAD-4.0.0 6.86314E-07
23288 49 I/T 66 rs373121875 0.4378 None gnomAD-2.1.1 4.12E-06
23290 51 D/H 68 rs776114674 0.1860 None gnomAD-2.1.1 4.1E-06
23290 51 D/H 68 rs776114674 0.1860 None gnomAD-4.0.0 6.85754E-07
23290 51 D/N 68 None 0.1860 None gnomAD-4.0.0 6.85754E-07
23292 53 T/R 70 rs1710041063 0.9579 None gnomAD-4.0.0 1.59613E-06
23293 54 G/R 71 None 0.6483 None gnomAD-4.0.0 1.59617E-06
23294 55 T/I 72 None 1.0474 None gnomAD-4.0.0 1.20032E-06
23295 56 A/D 75 None 0.3113 None gnomAD-4.0.0 1.20032E-06
23295 56 A/T 75 rs746519147 0.3113 None gnomAD-2.1.1 3.25E-05
23295 56 A/T 75 rs746519147 0.3113 None gnomAD-3.1.2 1.32E-05
23295 56 A/T 75 rs746519147 0.3113 None gnomAD-4.0.0 1.05453E-05
23297 58 R/G 83 rs779474257 0.9037 None gnomAD-2.1.1 4.05E-06
23297 58 R/G 83 rs779474257 0.9037 None gnomAD-4.0.0 2.05418E-06
23300 61 Q/L 90 None 0.6137 None gnomAD-4.0.0 1.20032E-06
23301 62 F/L 91 rs372799151 0.1964 None gnomAD-2.1.1 2.26111E-04
23301 62 F/L 91 rs372799151 0.1964 None gnomAD-3.1.2 7.43147E-04
23301 62 F/L 91 rs372799151 0.1964 None 1000 genomes 1.99681E-04
23301 62 F/L 91 rs372799151 0.1964 None gnomAD-4.0.0 1.22144E-04
23302 63 V/I 92 rs190421400 0.4109 None gnomAD-2.1.1 1.50721E-04
23302 63 V/I 92 rs190421400 0.4109 None gnomAD-3.1.2 3.55128E-04
23302 63 V/I 92 rs190421400 0.4109 None 1000 genomes 7.98722E-04
23302 63 V/I 92 rs190421400 0.4109 None gnomAD-4.0.0 7.75029E-05
23303 64 V/D 93 None 0.0971 None gnomAD-4.0.0 4.80129E-06
23303 64 V/L 93 None 0.0971 None gnomAD-4.0.0 1.20032E-06
23305 66 D/N 96 None 0.8689 None gnomAD-4.0.0 2.05367E-06
23306 67 L/P 97 None 0.1006 None gnomAD-4.0.0 1.59296E-06
23311 72 K/R 103 rs1025638052 0.3256 None gnomAD-4.0.0 1.59333E-06
23314 75 F/L 106 None 0.1152 None gnomAD-4.0.0 1.20032E-06
23315 76 R/K 107 rs756974395 0.1669 None gnomAD-2.1.1 6.38E-05
23315 76 R/K 107 rs756974395 0.1669 None gnomAD-3.1.2 1.32E-05
23315 76 R/K 107 rs756974395 0.1669 None gnomAD-4.0.0 3.84767E-06
23315 76 R/S 107 None 0.1669 None gnomAD-4.0.0 1.59308E-06
23317 78 S/R 109 rs1165001201 0.1398 None gnomAD-2.1.1 4.04E-06
23317 78 S/R 109 rs1165001201 0.1398 None gnomAD-4.0.0 3.18633E-06
23318 79 A/V 110 None 0.0948 None gnomAD-4.0.0 1.59314E-06
23319 80 I/M 111 rs540840413 0.1788 None gnomAD-2.1.1 5.73E-05
23319 80 I/M 111 rs540840413 0.1788 None gnomAD-3.1.2 3.29E-05
23319 80 I/M 111 rs540840413 0.1788 None 1000 genomes 3.99361E-04
23319 80 I/M 111 rs540840413 0.1788 None gnomAD-4.0.0 3.03769E-05
23319 80 I/V 111 rs753718401 0.1788 None gnomAD-2.1.1 8.07E-06
23319 80 I/V 111 rs753718401 0.1788 None gnomAD-4.0.0 1.20032E-06
23320 81 N/S 112 rs756468956 0.1049 None gnomAD-2.1.1 4.03E-06
23320 81 N/S 112 rs756468956 0.1049 None gnomAD-3.1.2 1.31E-05
23320 81 N/S 112 rs756468956 0.1049 None gnomAD-4.0.0 2.47986E-06
23321 82 D/H 113 None 0.9113 None gnomAD-4.0.0 3.42293E-06
23321 82 D/N 113 rs571879486 0.9113 None gnomAD-2.1.1 4.04E-06
23321 82 D/N 113 rs571879486 0.9113 None gnomAD-3.1.2 1.32E-05
23321 82 D/N 113 rs571879486 0.9113 None 1000 genomes 1.99681E-04
23321 82 D/N 113 rs571879486 0.9113 None gnomAD-4.0.0 3.71995E-06
23322 83 A/P 114 None 0.4618 None gnomAD-4.0.0 1.59303E-06
23323 84 G/D 115 None 0.2193 None gnomAD-4.0.0 1.20032E-06
23323 84 G/R 115 None 0.2193 None gnomAD-4.0.0 1.20032E-06
23323 84 G/S 115 rs1710012018 0.2193 None gnomAD-4.0.0 1.20032E-06
23324 85 V/A 117 None 0.5306 None gnomAD-4.0.0 1.36898E-06
23324 85 V/F 117 None 0.5306 None gnomAD-4.0.0 3.18564E-06
23324 85 V/I 117 rs1710011007 0.5306 None gnomAD-4.0.0 1.59282E-06
23325 86 G/R 118 rs371871513 0.1619 None gnomAD-2.1.1 3.19E-05
23325 86 G/R 118 rs371871513 0.1619 None gnomAD-3.1.2 1.31E-05
23325 86 G/R 118 rs371871513 0.1619 None gnomAD-4.0.0 3.84632E-06
23325 86 G/V 118 None 0.1619 None gnomAD-4.0.0 1.59281E-06
23326 87 E/K 119 None 0.7504 None gnomAD-4.0.0 1.20032E-06
23327 88 P/S 120 None 0.4371 None gnomAD-4.0.0 3.18491E-06
23328 89 A/V 121 rs1466750954 0.1651 None gnomAD-2.1.1 2.02E-05
23328 89 A/V 121 rs1466750954 0.1651 None gnomAD-3.1.2 6.58E-06
23328 89 A/V 121 rs1466750954 0.1651 None gnomAD-4.0.0 5.70335E-05
23329 90 V/M 122 None 0.3808 None gnomAD-4.0.0 1.20032E-06
23330 91 I/T 123 rs1211020644 0.1612 None gnomAD-2.1.1 4.03E-06
23330 91 I/T 123 rs1211020644 0.1612 None gnomAD-4.0.0 1.59211E-06
23331 92 P/L 124 None 0.5145 None gnomAD-4.0.0 1.5921E-06
23332 93 D/H 125 None 0.5851 None gnomAD-4.0.0 1.36872E-06
23333 94 V/A 126 None 0.1965 None gnomAD-4.0.0 2.40064E-06
23333 94 V/F 126 rs1710003146 0.1965 None gnomAD-4.0.0 1.20032E-06
23336 97 V/I 130 rs781015638 0.3779 None gnomAD-2.1.1 2.01E-05
23336 97 V/I 130 rs781015638 0.3779 None gnomAD-3.1.2 6.58E-06
23336 97 V/I 130 rs781015638 0.3779 None gnomAD-4.0.0 1.05372E-05
23337 98 E/K 131 None 0.3938 None gnomAD-4.0.0 1.59197E-06
23337 98 E/Q 131 rs1709996308 0.3938 None gnomAD-3.1.2 6.58E-06
23337 98 E/Q 131 rs1709996308 0.3938 None gnomAD-4.0.0 2.56339E-06
23338 99 R/Q 132 rs78916558 0.6283 None gnomAD-2.1.1 3.57E-05
23338 99 R/Q 132 rs78916558 0.6283 None gnomAD-3.1.2 1.97E-05
23338 99 R/Q 132 rs78916558 0.6283 None 1000 genomes 3.99361E-04
23338 99 R/Q 132 rs78916558 0.6283 None gnomAD-4.0.0 8.67728E-06
23338 99 R/W 132 rs773695377 0.6283 None gnomAD-2.1.1 1.43E-05
23338 99 R/W 132 rs773695377 0.6283 None gnomAD-3.1.2 1.32E-05
23338 99 R/W 132 rs773695377 0.6283 None gnomAD-4.0.0 9.29804E-06