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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
15302 1 L/F 1 rs1229771826 0.2574 None gnomAD-3.1.2 6.59E-06
15302 1 L/F 1 rs1229771826 0.2574 None gnomAD-4.0.0 1.24573E-06
15303 2 R/K 2 None 0.5654 None gnomAD-4.0.0 1.60534E-06
15303 2 R/M 2 rs771683786 0.5654 None gnomAD-2.1.1 5.46E-05
15303 2 R/M 2 rs771683786 0.5654 None gnomAD-3.1.2 9.87E-05
15303 2 R/M 2 rs771683786 0.5654 None gnomAD-4.0.0 4.90436E-05
15303 2 R/S 2 None 0.5654 None gnomAD-4.0.0 6.86754E-07
15303 2 R/T 2 rs771683786 0.5654 None gnomAD-2.1.1 4.11E-06
15303 2 R/T 2 rs771683786 0.5654 None gnomAD-4.0.0 1.60534E-06
15305 4 V/A 4 rs1281172313 0.4878 None gnomAD-2.1.1 4.09E-06
15305 4 V/A 4 rs1281172313 0.4878 None gnomAD-4.0.0 3.20302E-06
15305 4 V/F 4 None 0.4878 None gnomAD-4.0.0 1.60184E-06
15306 5 E/D 5 rs761792062 0.3153 None gnomAD-2.1.1 1.23E-05
15306 5 E/D 5 rs761792062 0.3153 None gnomAD-4.0.0 1.2352E-05
15306 5 E/K 5 rs774339883 0.3153 None gnomAD-2.1.1 1.23E-05
15306 5 E/K 5 rs774339883 0.3153 None gnomAD-3.1.2 6.59E-06
15306 5 E/K 5 rs774339883 0.3153 None gnomAD-4.0.0 3.79034E-05
15307 6 P/L 7 rs749054832 0.6082 None gnomAD-2.1.1 4.09E-06
15308 7 L/P 8 None 0.1621 None gnomAD-4.0.0 1.59934E-06
15308 7 L/V 8 None 0.1621 None gnomAD-4.0.0 1.60035E-06
15309 8 K/N 9 rs2154211123 0.8101 None gnomAD-4.0.0 1.59939E-06
15309 8 K/T 9 rs540113938 0.8101 None gnomAD-2.1.1 4.08E-06
15309 8 K/T 9 rs540113938 0.8101 None gnomAD-3.1.2 6.58E-06
15309 8 K/T 9 rs540113938 0.8101 None 1000 genomes 1.99681E-04
15309 8 K/T 9 rs540113938 0.8101 None gnomAD-4.0.0 2.5731E-06
15311 10 I/S 13 None 0.2184 None gnomAD-4.0.0 6.85409E-07
15311 10 I/T 13 rs769964778 0.2184 None gnomAD-2.1.1 4.06E-06
15311 10 I/T 13 rs769964778 0.2184 None gnomAD-4.0.0 6.85409E-07
15312 11 E/K 14 None 0.8175 None gnomAD-4.0.0 1.59785E-06
15312 11 E/Q 14 rs748340315 0.8175 None gnomAD-2.1.1 4.06E-06
15312 11 E/Q 14 rs748340315 0.8175 None gnomAD-4.0.0 3.19569E-06
15313 12 T/I 16 rs2058109086 0.1956 None gnomAD-4.0.0 6.85359E-07
15314 13 M/L 18 rs1391292606 0.5858 None gnomAD-4.0.0 6.85269E-07
15314 13 M/V 18 rs1391292606 0.5858 None gnomAD-2.1.1 3.19E-05
15314 13 M/V 18 rs1391292606 0.5858 None gnomAD-3.1.2 6.58E-06
15314 13 M/V 18 rs1391292606 0.5858 None gnomAD-4.0.0 3.10318E-06
15315 14 E/G 23 None 0.2595 None gnomAD-4.0.0 6.00161E-06
15315 14 E/K 23 rs1191106743 0.2595 None gnomAD-2.1.1 3.19E-05
15315 14 E/K 23 rs1191106743 0.2595 None gnomAD-3.1.2 6.58E-06
15315 14 E/K 23 rs1191106743 0.2595 None gnomAD-4.0.0 3.10331E-06
15316 15 K/N 24 rs781445105 0.7569 None gnomAD-2.1.1 4.06E-06
15316 15 K/N 24 rs781445105 0.7569 None gnomAD-4.0.0 1.59663E-06
15321 20 F/I 30 None 0.1033 None gnomAD-4.0.0 4.11036E-06
15321 20 F/L 30 rs2058106190 0.1033 None gnomAD-4.0.0 6.8506E-07
15321 20 F/S 30 rs1344016534 0.1033 None gnomAD-2.1.1 4.05E-06
15321 20 F/S 30 rs1344016534 0.1033 None gnomAD-4.0.0 1.37011E-06
15322 21 W/C 31 rs2058105154 0.4027 None gnomAD-4.0.0 6.85008E-07
15326 25 N/K 38 None 0.3625 None gnomAD-4.0.0 6.84882E-07
15326 25 N/S 38 rs2058104840 0.3625 None gnomAD-3.1.2 6.58E-06
15326 25 N/S 38 rs2058104840 0.3625 None gnomAD-4.0.0 6.58059E-06
15327 26 R/C 40 rs367774903 0.1949 None gnomAD-2.1.1 1.68987E-04
15327 26 R/C 40 rs367774903 0.1949 None gnomAD-3.1.2 1.44834E-04
15327 26 R/C 40 rs367774903 0.1949 None gnomAD-4.0.0 1.18496E-04
15327 26 R/H 40 rs374697274 0.1949 None gnomAD-2.1.1 4.86E-05
15327 26 R/H 40 rs374697274 0.1949 None gnomAD-3.1.2 6.58E-05
15327 26 R/H 40 rs374697274 0.1949 None gnomAD-4.0.0 1.04839E-04
15329 28 N/D 43 rs1417624685 1.0097 None gnomAD-2.1.1 4.05E-06
15329 28 N/D 43 rs1417624685 1.0097 None gnomAD-4.0.0 1.5947E-06
15329 28 N/I 43 None 1.0097 None gnomAD-4.0.0 6.84846E-07
15329 28 N/S 43 rs371734564 1.0097 None gnomAD-2.1.1 4.05E-06
15329 28 N/S 43 rs371734564 1.0097 None gnomAD-4.0.0 4.10908E-06
15330 29 V/I 44 rs1476334999 0.1895 None gnomAD-2.1.1 4.04E-06
15330 29 V/I 44 rs1476334999 0.1895 None gnomAD-4.0.0 6.37849E-06
15330 29 V/L 44 rs1476334999 0.1895 None gnomAD-4.0.0 1.59462E-06
15332 31 L/M 46 None 0.1125 None gnomAD-4.0.0 6.84812E-07
15332 31 L/P 46 None 0.1125 None gnomAD-4.0.0 1.3696E-06
15335 34 T/I 49 None 0.1875 None gnomAD-4.0.0 1.59441E-06
15337 36 N/H 51 None 0.5633 None gnomAD-4.0.0 1.20032E-06
15337 36 N/I 51 rs762315032 0.5633 None gnomAD-2.1.1 3.19E-05
15337 36 N/I 51 rs762315032 0.5633 None gnomAD-4.0.0 1.71198E-05
15338 37 G/S 52 None 0.4586 None gnomAD-4.0.0 6.84774E-07
15339 38 E/G 55 None 0.8352 None gnomAD-4.0.0 1.59421E-06
15340 39 E/D 56 rs1576546728 0.4874 None gnomAD-4.0.0 1.36953E-06
15342 41 P/H 59 rs2154211069 0.5801 None gnomAD-4.0.0 1.59417E-06
15344 43 D/G 73 None 0.3274 None gnomAD-4.0.0 1.59412E-06
15345 44 N/K 111 None 1.0105 None gnomAD-4.0.0 1.3695E-06
15345 44 N/S 111 None 1.0105 None gnomAD-4.0.0 1.20032E-06
15346 45 R/C 115 rs767343871 0.2102 None gnomAD-2.1.1 2.15E-05
15346 45 R/C 115 rs767343871 0.2102 None gnomAD-3.1.2 1.32E-05
15346 45 R/C 115 rs767343871 0.2102 None gnomAD-4.0.0 1.05446E-05
15346 45 R/H 115 rs367996763 0.2102 None gnomAD-2.1.1 2.02E-05
15346 45 R/H 115 rs367996763 0.2102 None gnomAD-3.1.2 3.29E-05
15346 45 R/H 115 rs367996763 0.2102 None gnomAD-4.0.0 1.36455E-05
15347 46 V/A 121 None 0.1061 None gnomAD-4.0.0 2.05422E-06
15347 46 V/G 121 rs375367475 0.1061 None gnomAD-2.1.1 6.45E-05
15347 46 V/G 121 rs375367475 0.1061 None gnomAD-3.1.2 2.30427E-04
15347 46 V/G 121 rs375367475 0.1061 None 1000 genomes 1.99681E-04
15347 46 V/G 121 rs375367475 0.1061 None gnomAD-4.0.0 3.41103E-05
15347 46 V/I 121 None 0.1061 None gnomAD-4.0.0 1.36948E-06
15348 47 S/A 122 rs766291551 0.1927 None gnomAD-2.1.1 4.04E-06
15348 47 S/A 122 rs766291551 0.1927 None gnomAD-4.0.0 1.59412E-06
15349 48 Y/H 123 rs977496032 0.1691 None gnomAD-3.1.2 6.58E-06
15349 48 Y/H 123 rs977496032 0.1691 None gnomAD-4.0.0 2.03037E-06
15350 49 R/G 125 None 0.7239 None gnomAD-4.0.0 3.42373E-06
15350 49 R/K 125 None 0.7239 None gnomAD-4.0.0 1.20032E-06
15351 50 V/G 127 rs1291092152 0.3010 None gnomAD-2.1.1 4.04E-06
15351 50 V/G 127 rs1291092152 0.3010 None gnomAD-4.0.0 3.14987E-05
15351 50 V/I 127 None 0.3010 None gnomAD-4.0.0 4.80129E-06
15352 51 D/G 130 rs769556979 0.6277 None gnomAD-2.1.1 1.62E-05
15352 51 D/G 130 rs769556979 0.6277 None gnomAD-4.0.0 7.97123E-06
15353 52 K/E 131 rs747996981 0.7119 None gnomAD-2.1.1 8.08E-06
15353 52 K/E 131 rs747996981 0.7119 None gnomAD-4.0.0 3.18855E-06
15353 52 K/M 131 None 0.7119 None gnomAD-4.0.0 1.20032E-06
15354 53 Y/C 134 rs886038861 0.4507 None gnomAD-2.1.1 4.04E-06
15354 53 Y/C 134 rs886038861 0.4507 None gnomAD-4.0.0 1.3695E-05
15354 53 Y/H 134 rs1324351583 0.4507 None gnomAD-2.1.1 4.04E-06
15354 53 Y/H 134 rs1324351583 0.4507 None gnomAD-4.0.0 1.09562E-05
15355 54 K/N 135 rs397517583 0.1781 None gnomAD-2.1.1 2.98811E-04
15355 54 K/N 135 rs397517583 0.1781 None gnomAD-3.1.2 8.56E-05
15355 54 K/N 135 rs397517583 0.1781 None 1000 genomes 5.99042E-04
15355 54 K/N 135 rs397517583 0.1781 None gnomAD-4.0.0 1.35205E-04
15355 54 K/Q 135 None 0.1781 None gnomAD-4.0.0 1.3695E-06
15355 54 K/R 135 rs776832569 0.1781 None gnomAD-2.1.1 4.04E-06
15357 56 M/I 137 None 0.1893 None gnomAD-4.0.0 6.84779E-07
15359 58 T/N 139 rs780024396 0.1875 None gnomAD-2.1.1 4.04E-06
15359 58 T/N 139 rs780024396 0.1875 None gnomAD-4.0.0 3.18866E-06
15360 59 I/M 140 rs746352388 0.0905 None gnomAD-2.1.1 4.04E-06
15360 59 I/M 140 rs746352388 0.0905 None gnomAD-4.0.0 3.18877E-06
15360 59 I/T 140 rs1465320800 0.0905 None gnomAD-2.1.1 1.43E-05
15360 59 I/T 140 rs1465320800 0.0905 None gnomAD-3.1.2 1.98E-05
15360 59 I/T 140 rs1465320800 0.0905 None gnomAD-4.0.0 1.92282E-05
15360 59 I/V 140 rs758542642 0.0905 None gnomAD-2.1.1 4.04E-06
15360 59 I/V 140 rs758542642 0.0905 None gnomAD-4.0.0 1.59436E-06
15362 61 D/E 143 rs2058092096 0.4748 None gnomAD-4.0.0 1.59442E-06
15362 61 D/G 143 rs779619831 0.4748 None gnomAD-4.0.0 1.59441E-06
15363 62 C/G 144 None 0.0717 None gnomAD-4.0.0 1.20032E-06
15368 67 E/A 151 None 0.2370 None gnomAD-4.0.0 1.59442E-06
15368 67 E/K 151 None 0.2370 None gnomAD-4.0.0 1.59446E-06
15369 68 G/S 152 rs754258909 0.1643 None gnomAD-2.1.1 8.08E-06
15369 68 G/S 152 rs754258909 0.1643 None gnomAD-3.1.2 1.32E-05
15369 68 G/S 152 rs754258909 0.1643 None gnomAD-4.0.0 3.85078E-06
15370 69 E/V 153 None 0.4047 None gnomAD-4.0.0 1.59445E-06
15372 71 I/L 155 None 0.2110 None gnomAD-4.0.0 6.8481E-07
15372 71 I/T 155 None 0.2110 None gnomAD-4.0.0 1.59452E-06
15372 71 I/V 155 rs2154211008 0.2110 None gnomAD-4.0.0 6.8481E-07
15373 72 V/D 156 rs2058089139 0.0790 None gnomAD-3.1.2 6.58E-06
15373 72 V/D 156 rs2058089139 0.0790 None gnomAD-4.0.0 6.58302E-06
15374 73 T/A 157 rs1313103090 0.2847 None gnomAD-3.1.2 6.58E-06
15374 73 T/A 157 rs1313103090 0.2847 None gnomAD-4.0.0 6.58293E-06
15375 74 A/S 158 rs767265973 0.1011 None gnomAD-2.1.1 4.04E-06
15375 74 A/S 158 rs767265973 0.1011 None gnomAD-4.0.0 1.36969E-06
15375 74 A/T 158 rs767265973 0.1011 None gnomAD-2.1.1 4.04E-06
15375 74 A/T 158 rs767265973 0.1011 None gnomAD-3.1.2 6.58E-06
15375 74 A/T 158 rs767265973 0.1011 None gnomAD-4.0.0 9.92526E-06
15376 75 G/E 159 None 0.4132 None gnomAD-4.0.0 1.20032E-06
15376 75 G/R 159 rs1370978801 0.4132 None gnomAD-2.1.1 4.04E-06
15376 75 G/R 159 rs1370978801 0.4132 None gnomAD-4.0.0 1.36974E-06
15377 76 Q/E 165 None 1.0990 None gnomAD-4.0.0 1.36972E-06
15377 76 Q/K 165 None 1.0990 None gnomAD-4.0.0 6.84858E-07
15377 76 Q/R 165 None 1.0990 None gnomAD-4.0.0 2.40064E-06
15378 77 D/G 166 rs1443484418 0.3527 None gnomAD-2.1.1 4.04E-06
15378 77 D/G 166 rs1443484418 0.3527 None gnomAD-4.0.0 1.59502E-06
15378 77 D/H 166 rs1301703106 0.3527 None gnomAD-4.0.0 1.59506E-06
15378 77 D/N 166 rs1301703106 0.3527 None gnomAD-2.1.1 4.04E-06
15378 77 D/N 166 rs1301703106 0.3527 None gnomAD-4.0.0 1.59506E-06
15381 80 V/A 171 rs369269320 0.3264 None gnomAD-2.1.1 3.60628E-04
15381 80 V/A 171 rs369269320 0.3264 None gnomAD-3.1.2 1.38256E-04
15381 80 V/A 171 rs369269320 0.3264 None 1000 genomes 5.99042E-04
15381 80 V/A 171 rs369269320 0.3264 None gnomAD-4.0.0 1.46468E-04
15383 82 E/K 173 rs773073914 0.6243 None gnomAD-4.0.0 6.854E-07
15383 82 E/Q 173 rs773073914 0.6243 None gnomAD-2.1.1 1.08E-05
15383 82 E/Q 173 rs773073914 0.6243 None gnomAD-3.1.2 2.63E-05
15383 82 E/Q 173 rs773073914 0.6243 None gnomAD-4.0.0 3.35225E-05
15384 83 L/F 174 rs727505078 0.1051 None gnomAD-2.1.1 4.06E-06
15384 83 L/F 174 rs727505078 0.1051 None gnomAD-4.0.0 6.85478E-07
15384 83 L/V 174 rs727505078 0.1051 None gnomAD-4.0.0 1.02822E-05
15385 84 L/F 175 rs2058085346 0.6030 None gnomAD-3.1.2 6.58E-06
15385 84 L/F 175 rs2058085346 0.6030 None gnomAD-4.0.0 6.58285E-06
15385 84 L/R 175 None 0.6030 None gnomAD-4.0.0 1.59966E-06
15386 85 I/T 178 None 0.6156 None gnomAD-4.0.0 1.5998E-06
15386 85 I/V 178 rs879033914 0.6156 None gnomAD-4.0.0 2.05735E-06