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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
34363 1 P/L 1 rs1457631231 0.1921 None gnomAD-3.1.2 6.57E-06
34363 1 P/L 1 rs1457631231 0.1921 None gnomAD-4.0.0 6.57333E-06
34363 1 P/R 1 rs1457631231 0.1921 None gnomAD-2.1.1 4.02E-06
34363 1 P/R 1 rs1457631231 0.1921 None gnomAD-4.0.0 1.59134E-06
34363 1 P/S 1 rs771573240 0.1921 None gnomAD-2.1.1 8.05E-06
34363 1 P/S 1 rs771573240 0.1921 None gnomAD-3.1.2 6.57E-06
34363 1 P/S 1 rs771573240 0.1921 None gnomAD-4.0.0 4.95735E-06
34363 1 P/T 1 None 0.1921 None gnomAD-4.0.0 6.84178E-07
34364 2 M/T 2 rs1057273567 0.6691 None gnomAD-2.1.1 7.14E-06
34364 2 M/T 2 rs1057273567 0.6691 None gnomAD-4.0.0 4.10552E-06
34365 3 F/V 3 None 0.1858 None gnomAD-4.0.0 1.59151E-06
34366 4 K/E 4 None 0.4947 None gnomAD-4.0.0 1.59167E-06
34367 5 R/K 5 None 0.5672 None gnomAD-4.0.0 1.59172E-06
34367 5 R/T 5 rs749757727 0.5672 None gnomAD-2.1.1 4.02E-06
34368 6 L/S 7 None 0.7525 None gnomAD-4.0.0 3.60097E-06
34370 8 A/E 9 rs748511301 0.5735 None gnomAD-2.1.1 4.02E-06
34370 8 A/E 9 rs748511301 0.5735 None gnomAD-4.0.0 1.59218E-06
34370 8 A/T 9 rs756504028 0.5735 None gnomAD-2.1.1 4.03E-06
34370 8 A/T 9 rs756504028 0.5735 None gnomAD-4.0.0 1.59207E-06
34371 9 N/H 11 None 0.6563 None gnomAD-4.0.0 1.20032E-06
34371 9 N/S 11 None 0.6563 None gnomAD-4.0.0 1.20032E-06
34374 12 C/F 16 rs368493317 0.1518 None gnomAD-2.1.1 3.18E-05
34374 12 C/F 16 rs368493317 0.1518 None gnomAD-3.1.2 6.57E-06
34374 12 C/F 16 rs368493317 0.1518 None gnomAD-4.0.0 1.61174E-05
34376 14 E/V 23 None 0.5491 None gnomAD-4.0.0 1.20032E-06
34378 16 Q/P 25 rs779618819 0.4456 None gnomAD-2.1.1 4.02E-06
34378 16 Q/P 25 rs779618819 0.4456 None gnomAD-4.0.0 6.36967E-06
34378 16 Q/R 25 rs779618819 0.4456 None gnomAD-2.1.1 4.02E-06
34378 16 Q/R 25 rs779618819 0.4456 None gnomAD-4.0.0 1.59242E-06
34379 17 S/G 26 rs758051666 0.3888 None gnomAD-3.1.2 6.57E-06
34379 17 S/G 26 rs758051666 0.3888 None gnomAD-4.0.0 6.56927E-06
34379 17 S/N 26 None 0.3888 None gnomAD-4.0.0 1.20032E-06
34379 17 S/R 26 rs758051666 0.3888 None gnomAD-2.1.1 4.02E-06
34380 18 V/I 28 rs749967687 0.2080 None gnomAD-2.1.1 4.02E-06
34380 18 V/I 28 rs749967687 0.2080 None gnomAD-4.0.0 3.42213E-06
34380 18 V/L 28 None 0.2080 None gnomAD-4.0.0 6.84425E-07
34381 19 C/F 29 rs1357763703 0.3004 None gnomAD-2.1.1 8.05E-06
34381 19 C/F 29 rs1357763703 0.3004 None gnomAD-3.1.2 6.57E-06
34381 19 C/F 29 rs1357763703 0.3004 None gnomAD-4.0.0 2.56314E-06
34381 19 C/S 29 rs1357763703 0.3004 None gnomAD-2.1.1 4.02E-06
34381 19 C/S 29 rs1357763703 0.3004 None gnomAD-4.0.0 4.7764E-06
34383 21 E/A 31 None 0.4113 None gnomAD-4.0.0 1.20032E-06
34383 21 E/Q 31 rs148525155 0.4113 None gnomAD-2.1.1 3.79394E-03
34383 21 E/Q 31 rs148525155 0.4113 None gnomAD-3.1.2 2.74649E-03
34383 21 E/Q 31 rs148525155 0.4113 None 1000 genomes 2.19649E-03
34383 21 E/Q 31 rs148525155 0.4113 None gnomAD-4.0.0 2.39467E-03
34384 22 I/N 33 rs1435527858 0.0901 None gnomAD-2.1.1 4.02E-06
34384 22 I/N 33 rs1435527858 0.0901 None gnomAD-4.0.0 1.59184E-06
34385 23 R/I 34 rs1369995123 0.3905 None gnomAD-2.1.1 4.02E-06
34386 24 V/A 35 rs1407044012 0.1163 None gnomAD-2.1.1 4.02E-06
34386 24 V/A 35 rs1407044012 0.1163 None gnomAD-4.0.0 6.84275E-07
34386 24 V/E 35 None 0.1163 None gnomAD-4.0.0 6.84275E-07
34386 24 V/M 35 rs763989580 0.1163 None gnomAD-2.1.1 1.61E-05
34386 24 V/M 35 rs763989580 0.1163 None gnomAD-3.1.2 1.31E-05
34386 24 V/M 35 rs763989580 0.1163 None gnomAD-4.0.0 6.1973E-06
34387 25 S/P 38 None 0.3076 None gnomAD-4.0.0 1.59145E-06
34388 26 G/D 40 rs760436734 0.2297 None gnomAD-2.1.1 8.05E-06
34388 26 G/D 40 rs760436734 0.2297 None gnomAD-4.0.0 3.18335E-06
34389 27 I/V 41 rs796349969 0.9821 None gnomAD-4.0.0 3.18283E-06
34390 28 P/L 42 rs1163886514 0.3776 None gnomAD-2.1.1 4.02E-06
34390 28 P/L 42 rs1163886514 0.3776 None gnomAD-3.1.2 1.31E-05
34390 28 P/L 42 rs1163886514 0.3776 None gnomAD-4.0.0 6.40576E-06
34391 29 P/L 43 rs775343253 0.6586 None gnomAD-2.1.1 7.14E-06
34391 29 P/L 43 rs775343253 0.6586 None gnomAD-3.1.2 1.31E-05
34391 29 P/L 43 rs775343253 0.6586 None gnomAD-4.0.0 2.04512E-05
34391 29 P/Q 43 None 0.6586 None gnomAD-2.1.1 4.02E-06
34391 29 P/Q 43 None 0.6586 None gnomAD-4.0.0 1.36848E-06
34391 29 P/R 43 rs775343253 0.6586 None gnomAD-2.1.1 8.05E-06
34391 29 P/R 43 rs775343253 0.6586 None gnomAD-4.0.0 2.73696E-06
34391 29 P/S 43 None 0.6586 None gnomAD-4.0.0 6.36503E-06
34392 30 P/A 44 None 0.1636 None gnomAD-4.0.0 6.84193E-07
34392 30 P/S 44 rs767698514 0.1636 None gnomAD-2.1.1 4.02E-06
34392 30 P/S 44 rs767698514 0.1636 None gnomAD-4.0.0 2.05258E-06
34392 30 P/T 44 rs767698514 0.1636 None gnomAD-4.0.0 6.84193E-07
34393 31 T/I 45 rs372299779 0.6492 None gnomAD-2.1.1 8.04E-06
34393 31 T/I 45 rs372299779 0.6492 None gnomAD-4.0.0 5.4735E-06
34393 31 T/P 45 rs947426325 0.6492 None gnomAD-2.1.1 4.02E-06
34393 31 T/P 45 rs947426325 0.6492 None gnomAD-3.1.2 6.57E-06
34393 31 T/P 45 rs947426325 0.6492 None gnomAD-4.0.0 1.05346E-05
34395 33 K/Q 47 rs368320079 0.7756 None gnomAD-2.1.1 4.02E-06
34395 33 K/Q 47 rs368320079 0.7756 None gnomAD-4.0.0 3.18218E-06
34396 34 W/R 48 rs1575264600 0.1896 None gnomAD-3.1.2 6.57E-06
34396 34 W/R 48 rs1575264600 0.1896 None gnomAD-4.0.0 2.47874E-06
34397 35 E/K 49 rs1559025541 0.2373 None gnomAD-4.0.0 1.36836E-06
34397 35 E/Q 49 rs1559025541 0.2373 None gnomAD-2.1.1 4.02E-06
34397 35 E/Q 49 rs1559025541 0.2373 None gnomAD-4.0.0 2.05254E-06
34399 37 D/H 51 rs1268716038 0.4931 None gnomAD-2.1.1 4.02E-06
34399 37 D/H 51 rs1268716038 0.4931 None gnomAD-4.0.0 1.36838E-06
34399 37 D/N 51 None 0.4931 None gnomAD-4.0.0 6.84189E-07
34399 37 D/Y 51 None 0.4931 None gnomAD-4.0.0 8.89446E-06
34402 40 P/S 56 rs1361480669 0.6982 None gnomAD-4.0.0 1.20032E-06
34403 41 L/V 58 rs773892755 0.1953 None gnomAD-2.1.1 4.02E-06
34403 41 L/V 58 rs773892755 0.1953 None gnomAD-4.0.0 6.8422E-07
34406 44 G/E 73 rs1346830355 0.3509 None gnomAD-2.1.1 4.02E-06
34406 44 G/E 73 rs1346830355 0.3509 None gnomAD-4.0.0 3.18307E-06
34406 44 G/R 73 rs371753532 0.3509 None gnomAD-2.1.1 1.21E-05
34406 44 G/R 73 rs371753532 0.3509 None gnomAD-4.0.0 1.30011E-05
34407 45 P/A 102 None 0.8420 None gnomAD-4.0.0 6.84296E-07
34407 45 P/S 102 rs1438404457 0.8420 None gnomAD-2.1.1 4.02E-06
34407 45 P/S 102 rs1438404457 0.8420 None gnomAD-3.1.2 6.57E-06
34407 45 P/S 102 rs1438404457 0.8420 None gnomAD-4.0.0 1.85928E-06
34408 46 N/D 115 None 0.4690 None gnomAD-4.0.0 1.59158E-06
34408 46 N/I 115 None 0.4690 None gnomAD-4.0.0 2.40064E-06
34408 46 N/K 115 None 0.4690 None gnomAD-4.0.0 1.59182E-06
34409 47 I/T 121 rs879013405 0.2116 None gnomAD-2.1.1 4.02E-06
34409 47 I/T 121 rs879013405 0.2116 None gnomAD-4.0.0 2.05287E-06
34411 49 I/N 123 rs72629784 0.3038 None gnomAD-2.1.1 1.21E-05
34411 49 I/N 123 rs72629784 0.3038 None gnomAD-3.1.2 1.97E-05
34411 49 I/N 123 rs72629784 0.3038 None gnomAD-4.0.0 3.71853E-06
34413 51 H/R 127 rs778415445 0.4105 None gnomAD-2.1.1 1.3205E-04
34413 51 H/R 127 rs778415445 0.4105 None gnomAD-3.1.2 1.31437E-04
34413 51 H/R 127 rs778415445 0.4105 None gnomAD-4.0.0 1.21732E-04
34415 53 G/D 131 rs919270464 0.4962 None gnomAD-2.1.1 3.19E-05
34415 53 G/D 131 rs919270464 0.4962 None gnomAD-3.1.2 6.57E-06
34415 53 G/D 131 rs919270464 0.4962 None gnomAD-4.0.0 6.57436E-06
34415 53 G/R 131 rs1170678153 0.4962 None gnomAD-2.1.1 4.02E-06
34415 53 G/R 131 rs1170678153 0.4962 None gnomAD-4.0.0 1.59181E-06
34417 55 D/A 134 rs1171155874 0.2791 None gnomAD-2.1.1 4.02E-06
34417 55 D/A 134 rs1171155874 0.2791 None gnomAD-4.0.0 1.59179E-06
34417 55 D/N 134 rs1394761197 0.2791 None gnomAD-2.1.1 4.02E-06
34417 55 D/Y 134 rs1394761197 0.2791 None gnomAD-2.1.1 3.19E-05
34417 55 D/Y 134 rs1394761197 0.2791 None gnomAD-3.1.2 6.57E-06
34417 55 D/Y 134 rs1394761197 0.2791 None gnomAD-4.0.0 3.84465E-06
34419 57 Y/F 136 None 0.2001 None gnomAD-4.0.0 3.60097E-06
34419 57 Y/H 136 None 0.2001 None gnomAD-4.0.0 1.20032E-06
34420 58 A/V 137 None 0.1170 None gnomAD-4.0.0 1.20032E-06
34422 60 H/Q 139 None 0.4420 None gnomAD-4.0.0 6.84291E-07
34423 61 I/S 140 rs756074712 0.1046 None gnomAD-2.1.1 2.01E-05
34423 61 I/S 140 rs756074712 0.1046 None gnomAD-3.1.2 1.31E-05
34423 61 I/S 140 rs756074712 0.1046 None gnomAD-4.0.0 9.29617E-06
34423 61 I/V 140 rs777746298 0.1046 None gnomAD-2.1.1 1.21E-05
34423 61 I/V 140 rs777746298 0.1046 None gnomAD-4.0.0 1.11413E-05
34424 62 R/G 141 None 0.4553 None gnomAD-4.0.0 1.59155E-06
34424 62 R/T 141 rs972117588 0.4553 None gnomAD-2.1.1 4.02E-06
34424 62 R/T 141 rs972117588 0.4553 None gnomAD-4.0.0 2.05281E-06
34425 63 D/E 143 rs752444322 0.6798 None gnomAD-2.1.1 4.02E-06
34425 63 D/N 143 None 0.6798 None gnomAD-4.0.0 2.05283E-06
34426 64 T/I 144 rs375049689 0.1030 None gnomAD-2.1.1 4.02E-06
34426 64 T/P 144 None 0.1030 None gnomAD-4.0.0 1.59151E-06
34427 65 L/S 145 rs759702754 0.4751 None gnomAD-2.1.1 4.02E-06
34427 65 L/S 145 rs759702754 0.4751 None gnomAD-4.0.0 3.42117E-06
34427 65 L/V 145 None 0.4751 None gnomAD-4.0.0 1.59136E-06
34428 66 P/L 146 None 0.3903 None gnomAD-4.0.0 1.5915E-06
34430 68 D/Y 149 rs751794473 0.2385 None gnomAD-2.1.1 8.04E-06
34430 68 D/Y 149 rs751794473 0.2385 None gnomAD-4.0.0 7.95646E-06
34431 69 T/M 151 rs192001910 0.2411 None gnomAD-2.1.1 6.45843E-04
34431 69 T/M 151 rs192001910 0.2411 None gnomAD-3.1.2 5.65232E-04
34431 69 T/M 151 rs192001910 0.2411 None 1000 genomes 1.99681E-04
34431 69 T/M 151 rs192001910 0.2411 None gnomAD-4.0.0 9.15868E-04
34431 69 T/R 151 rs192001910 0.2411 None gnomAD-3.1.2 6.57E-06
34431 69 T/R 151 rs192001910 0.2411 None gnomAD-4.0.0 3.09856E-06
34432 70 G/D 152 rs1236834777 0.1055 None gnomAD-4.0.0 6.36476E-06
34432 70 G/S 152 None 0.1055 None gnomAD-4.0.0 2.40064E-06
34432 70 G/V 152 rs1236834777 0.1055 None gnomAD-2.1.1 4.02E-06
34432 70 G/V 152 rs1236834777 0.1055 None gnomAD-4.0.0 1.59119E-06
34433 71 Y/N 153 None 0.5149 None gnomAD-4.0.0 1.59113E-06
34435 73 R/K 155 rs1309913813 0.3498 None gnomAD-2.1.1 4.02E-06
34435 73 R/K 155 rs1309913813 0.3498 None gnomAD-4.0.0 1.59105E-06
34435 73 R/T 155 None 0.3498 None gnomAD-4.0.0 1.59105E-06
34436 74 V/A 156 rs1575262566 0.0630 None gnomAD-4.0.0 1.59101E-06
34436 74 V/I 156 rs770266280 0.0630 None gnomAD-2.1.1 4.02E-06
34436 74 V/I 156 rs770266280 0.0630 None gnomAD-4.0.0 1.59105E-06
34437 75 T/I 157 None 0.2756 None gnomAD-4.0.0 1.59101E-06
34437 75 T/P 157 rs762313504 0.2756 None gnomAD-4.0.0 4.77395E-06
34438 76 A/T 158 None 0.0726 None gnomAD-4.0.0 1.591E-06
34439 77 T/I 159 None 0.3128 None gnomAD-4.0.0 6.84158E-07
34439 77 T/S 159 None 0.3128 None gnomAD-4.0.0 6.84158E-07
34440 78 N/D 161 rs564640252 0.1344 None gnomAD-3.1.2 6.57E-06
34440 78 N/D 161 rs564640252 0.1344 None 1000 genomes 1.99681E-04
34440 78 N/D 161 rs564640252 0.1344 None gnomAD-4.0.0 6.56435E-06
34440 78 N/T 161 None 0.1344 None gnomAD-4.0.0 1.20032E-06
34441 79 T/A 162 rs1166860726 0.8149 None gnomAD-4.0.0 1.59097E-06
34441 79 T/P 162 rs1166860726 0.8149 None gnomAD-2.1.1 3.18E-05
34442 80 A/V 163 rs745548644 0.6420 None gnomAD-2.1.1 2.81E-05
34442 80 A/V 163 rs745548644 0.6420 None gnomAD-4.0.0 1.09465E-05
34443 81 G/E 164 rs911726592 0.2859 None gnomAD-4.0.0 1.20032E-06
34445 83 T/I 166 rs778587344 0.2165 None gnomAD-2.1.1 8.04E-06
34445 83 T/I 166 rs778587344 0.2165 None gnomAD-3.1.2 1.31E-05
34445 83 T/I 166 rs778587344 0.2165 None gnomAD-4.0.0 3.04481E-06
34447 85 C/F 169 rs770558110 0.1136 None gnomAD-2.1.1 4.02E-06
34447 85 C/F 169 rs770558110 0.1136 None gnomAD-4.0.0 1.59093E-06
34448 86 Q/R 171 None 0.5072 None gnomAD-4.0.0 2.73658E-06
34451 89 L/V 174 rs1559023612 0.0873 None gnomAD-4.0.0 1.59093E-06
34453 91 V/M 177 None 0.1259 None gnomAD-4.0.0 1.59092E-06