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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
6292 1 P/S 1 rs1180688317 0.1718 None gnomAD-2.1.1 3.19E-05
6292 1 P/S 1 rs1180688317 0.1718 None gnomAD-3.1.2 6.57E-06
6292 1 P/S 1 rs1180688317 0.1718 None gnomAD-4.0.0 6.57436E-06
6293 2 S/P 2 rs1560769509 0.3325 None gnomAD-4.0.0 2.10097E-06
6294 3 F/L 3 rs953595241 0.1365 None gnomAD-4.0.0 6.9862E-07
6295 4 I/V 4 None 0.6085 None gnomAD-4.0.0 3.34191E-06
6296 5 K/E 5 None 0.5884 None gnomAD-4.0.0 1.20032E-06
6297 6 K/E 7 None 0.4728 None gnomAD-4.0.0 1.6573E-06
6297 6 K/R 7 rs1208730507 0.4728 None gnomAD-3.1.2 6.57E-06
6297 6 K/R 7 rs1208730507 0.4728 None gnomAD-4.0.0 2.02988E-06
6298 7 I/K 8 None 0.1099 None gnomAD-4.0.0 7.64784E-06
6298 7 I/R 8 rs375571785 0.1099 None gnomAD-2.1.1 4.44E-06
6298 7 I/R 8 rs375571785 0.1099 None gnomAD-4.0.0 6.95258E-07
6298 7 I/T 8 rs375571785 0.1099 None gnomAD-2.1.1 5.45E-05
6298 7 I/T 8 rs375571785 0.1099 None gnomAD-3.1.2 7.23E-05
6298 7 I/T 8 rs375571785 0.1099 None 1000 genomes 1.99681E-04
6298 7 I/T 8 rs375571785 0.1099 None gnomAD-4.0.0 3.08056E-05
6299 8 E/Q 9 rs2079911475 0.8101 None gnomAD-3.1.2 6.57E-06
6299 8 E/Q 9 rs2079911475 0.8101 None gnomAD-4.0.0 1.88389E-06
6300 9 N/S 11 None 0.5846 None gnomAD-4.0.0 1.20033E-06
6301 10 T/S 13 rs755238352 0.2652 None gnomAD-2.1.1 4.32E-06
6301 10 T/S 13 rs755238352 0.2652 None gnomAD-4.0.0 1.63359E-06
6302 11 T/I 14 None 0.4190 None gnomAD-4.0.0 6.90047E-07
6302 11 T/N 14 rs766831279 0.4190 None gnomAD-2.1.1 1.13E-05
6302 11 T/N 14 rs766831279 0.4190 None gnomAD-3.1.2 6.57E-06
6302 11 T/N 14 rs766831279 0.4190 None gnomAD-4.0.0 3.12243E-06
6304 13 V/I 18 None 0.3206 None gnomAD-4.0.0 6.88716E-07
6305 14 L/F 23 rs1197830521 0.3503 None gnomAD-4.0.0 6.87102E-07
6305 14 L/W 23 rs1267771409 0.3503 None gnomAD-2.1.1 4.18E-06
6307 16 S/T 25 rs758691112 0.2061 None gnomAD-2.1.1 2.22E-05
6307 16 S/T 25 rs758691112 0.2061 None gnomAD-3.1.2 6.58E-06
6307 16 S/T 25 rs758691112 0.2061 None gnomAD-4.0.0 2.58073E-06
6308 17 S/P 26 rs1259623992 0.4868 None gnomAD-2.1.1 4.17E-06
6308 17 S/P 26 rs1259623992 0.4868 None gnomAD-4.0.0 2.05991E-06
6309 18 A/S 28 None 0.1655 None gnomAD-4.0.0 1.60346E-06
6313 22 S/C 33 None 0.0957 None gnomAD-4.0.0 1.59802E-06
6313 22 S/G 33 rs767114791 0.0957 None gnomAD-2.1.1 4.12E-06
6313 22 S/G 33 rs767114791 0.0957 None gnomAD-4.0.0 1.59802E-06
6313 22 S/T 33 rs200120672 0.0957 None gnomAD-2.1.1 9.39959E-04
6313 22 S/T 33 rs200120672 0.0957 None gnomAD-3.1.2 9.07095E-04
6313 22 S/T 33 rs200120672 0.0957 None 1000 genomes 1.99681E-04
6313 22 S/T 33 rs200120672 0.0957 None gnomAD-4.0.0 3.58723E-04
6315 24 V/M 35 rs770552574 0.1307 None gnomAD-2.1.1 1.64E-05
6315 24 V/M 35 rs770552574 0.1307 None gnomAD-4.0.0 1.37044E-05
6316 25 A/G 38 None 0.3205 None gnomAD-4.0.0 1.5959E-06
6318 27 S/C 41 None 0.6698 None gnomAD-4.0.0 3.19025E-06
6319 28 P/L 42 rs2079901596 0.6901 None gnomAD-4.0.0 1.59475E-06
6319 28 P/S 42 rs749058126 0.6901 None gnomAD-2.1.1 8.17E-06
6319 28 P/S 42 rs749058126 0.6901 None gnomAD-4.0.0 2.05466E-05
6320 29 P/H 43 rs886246785 0.8111 None gnomAD-3.1.2 1.97E-05
6320 29 P/H 43 rs886246785 0.8111 None gnomAD-4.0.0 4.96173E-06
6320 29 P/L 43 None 0.8111 None gnomAD-4.0.0 6.84815E-07
6320 29 P/R 43 None 0.8111 None gnomAD-4.0.0 2.05445E-06
6321 30 I/V 44 rs145204073 0.1454 None gnomAD-2.1.1 4.95336E-04
6321 30 I/V 44 rs145204073 0.1454 None gnomAD-3.1.2 1.42064E-03
6321 30 I/V 44 rs145204073 0.1454 None 1000 genomes 3.19489E-03
6321 30 I/V 44 rs145204073 0.1454 None gnomAD-4.0.0 2.59231E-04
6322 31 S/F 45 None 0.3652 None gnomAD-4.0.0 1.20032E-06
6323 32 I/L 46 rs2079899039 0.1986 None gnomAD-3.1.2 6.57E-06
6323 32 I/L 46 rs2079899039 0.1986 None gnomAD-4.0.0 1.86043E-06
6324 33 T/N 47 None 0.3081 None gnomAD-4.0.0 3.42357E-06
6324 33 T/S 47 rs2079898671 0.3081 None gnomAD-4.0.0 1.36943E-06
6329 38 D/N 52 rs748054208 0.6774 None gnomAD-2.1.1 8.13E-06
6329 38 D/N 52 rs748054208 0.6774 None gnomAD-4.0.0 4.78127E-06
6329 38 D/V 52 rs781304014 0.6774 None gnomAD-2.1.1 4.06E-06
6329 38 D/V 52 rs781304014 0.6774 None gnomAD-4.0.0 4.7808E-06
6331 40 I/L 56 rs1198892837 0.7147 None gnomAD-2.1.1 4.06E-06
6331 40 I/L 56 rs1198892837 0.7147 None gnomAD-3.1.2 6.57E-06
6331 40 I/L 56 rs1198892837 0.7147 None gnomAD-4.0.0 3.72031E-06
6332 41 L/V 58 rs1441559155 0.2922 None gnomAD-2.1.1 4.06E-06
6332 41 L/V 58 rs1441559155 0.2922 None gnomAD-4.0.0 1.59358E-06
6333 42 D/Y 59 rs1275885460 0.8453 None gnomAD-2.1.1 4.06E-06
6333 42 D/Y 59 rs1275885460 0.8453 None gnomAD-4.0.0 1.59366E-06
6334 43 E/D 70 rs755041916 0.4498 None gnomAD-2.1.1 4.06E-06
6334 43 E/D 70 rs755041916 0.4498 None gnomAD-4.0.0 6.84613E-07
6334 43 E/G 70 rs2079893948 0.4498 None gnomAD-4.0.0 3.60097E-06
6335 44 D/G 73 rs72648951 0.3942 None gnomAD-2.1.1 3.03735E-03
6335 44 D/G 73 rs72648951 0.3942 None gnomAD-3.1.2 9.37455E-03
6335 44 D/G 73 rs72648951 0.3942 None 1000 genomes 9.1853E-03
6335 44 D/G 73 rs72648951 0.3942 None gnomAD-4.0.0 1.66469E-03
6335 44 D/N 73 rs1346291126 0.3942 None gnomAD-2.1.1 4.06E-06
6335 44 D/N 73 rs1346291126 0.3942 None gnomAD-4.0.0 1.36926E-06
6335 44 D/V 73 None 0.3942 None gnomAD-4.0.0 1.36923E-06
6336 45 D/E 102 rs1416824072 1.0581 None gnomAD-2.1.1 3.19E-05
6336 45 D/E 102 rs1416824072 1.0581 None gnomAD-3.1.2 6.57E-06
6336 45 D/E 102 rs1416824072 1.0581 None gnomAD-4.0.0 6.57255E-06
6336 45 D/G 102 rs780149886 1.0581 None gnomAD-2.1.1 7.2E-06
6336 45 D/G 102 rs780149886 1.0581 None gnomAD-3.1.2 6.57E-06
6336 45 D/G 102 rs780149886 1.0581 None gnomAD-4.0.0 5.58031E-06
6337 46 N/S 115 None 0.2576 None gnomAD-4.0.0 1.59328E-06
6339 48 Y/C 122 rs192553687 0.4727 None gnomAD-2.1.1 1.1502E-04
6339 48 Y/C 122 rs192553687 0.4727 None gnomAD-3.1.2 2.10352E-04
6339 48 Y/C 122 rs192553687 0.4727 None gnomAD-4.0.0 3.65773E-04
6339 48 Y/D 122 None 0.4727 None gnomAD-4.0.0 1.20032E-06
6342 51 F/S 127 None 0.3159 None gnomAD-4.0.0 1.20032E-06
6343 52 V/A 130 None 0.6448 None gnomAD-4.0.0 1.59318E-06
6344 53 D/E 131 rs750787195 0.8765 None gnomAD-4.0.0 8.21481E-06
6345 54 S/C 134 None 0.3650 None gnomAD-4.0.0 6.84564E-07
6345 54 S/G 134 rs1447554517 0.3650 None gnomAD-2.1.1 4.05E-06
6345 54 S/G 134 rs1447554517 0.3650 None gnomAD-4.0.0 1.36913E-06
6345 54 S/R 134 None 0.3650 None gnomAD-4.0.0 1.59315E-06
6346 55 V/M 135 rs537966944 0.2448 None gnomAD-2.1.1 2.51E-05
6346 55 V/M 135 rs537966944 0.2448 None gnomAD-3.1.2 1.97E-05
6346 55 V/M 135 rs537966944 0.2448 None 1000 genomes 1.99681E-04
6346 55 V/M 135 rs537966944 0.2448 None gnomAD-4.0.0 3.40967E-05
6348 57 T/K 137 None 0.2045 None gnomAD-4.0.0 1.59304E-06
6349 58 L/I 138 rs2079884280 0.0779 None gnomAD-3.1.2 6.57E-06
6349 58 L/I 138 rs2079884280 0.0779 None gnomAD-4.0.0 6.57428E-06
6350 59 Q/H 139 rs113892821 0.3813 None gnomAD-2.1.1 3.19E-05
6350 59 Q/H 139 rs113892821 0.3813 None gnomAD-3.1.2 6.57E-06
6350 59 Q/H 139 rs113892821 0.3813 None gnomAD-4.0.0 1.23992E-06
6352 61 R/G 141 rs569003242 0.5121 None gnomAD-2.1.1 1.62E-05
6352 61 R/G 141 rs569003242 0.5121 None gnomAD-3.1.2 3.29E-05
6352 61 R/G 141 rs569003242 0.5121 None 1000 genomes 1.99681E-04
6352 61 R/G 141 rs569003242 0.5121 None gnomAD-4.0.0 8.67894E-06
6352 61 R/K 141 None 0.5121 None gnomAD-4.0.0 1.59303E-06
6353 62 S/R 143 None 0.3398 None gnomAD-4.0.0 1.36902E-06
6354 63 V/M 144 rs754383943 0.0922 None gnomAD-3.1.2 6.57E-06
6354 63 V/M 144 rs754383943 0.0922 None gnomAD-4.0.0 6.57358E-06
6355 64 D/H 145 rs188878341 0.3303 None gnomAD-2.1.1 4.05E-06
6355 64 D/H 145 rs188878341 0.3303 None gnomAD-4.0.0 1.36905E-06
6355 64 D/Y 145 rs188878341 0.3303 None gnomAD-2.1.1 2.15361E-04
6355 64 D/Y 145 rs188878341 0.3303 None gnomAD-3.1.2 6.31114E-04
6355 64 D/Y 145 rs188878341 0.3303 None 1000 genomes 1.99681E-04
6355 64 D/Y 145 rs188878341 0.3303 None gnomAD-4.0.0 1.33284E-04
6356 65 N/I 146 rs773854949 0.5553 None gnomAD-2.1.1 4.05E-06
6356 65 N/I 146 rs773854949 0.5553 None gnomAD-3.1.2 6.57E-06
6356 65 N/I 146 rs773854949 0.5553 None gnomAD-4.0.0 7.43953E-06
6356 65 N/S 146 None 0.5553 None gnomAD-4.0.0 6.84532E-07
6357 66 G/E 148 rs368765224 0.3372 None gnomAD-2.1.1 4.04E-06
6357 66 G/E 148 rs368765224 0.3372 None gnomAD-4.0.0 1.36908E-06
6357 66 G/V 148 rs368765224 0.3372 None gnomAD-2.1.1 4.04E-06
6357 66 G/V 148 rs368765224 0.3372 None gnomAD-4.0.0 6.84541E-07
6359 68 S/G 151 None 0.2442 None gnomAD-4.0.0 1.20032E-06
6359 68 S/N 151 rs2079878720 0.2442 None gnomAD-4.0.0 6.84571E-07
6359 68 S/R 151 None 0.2442 None gnomAD-4.0.0 1.20032E-06
6359 68 S/T 151 None 0.2442 None gnomAD-4.0.0 6.84571E-07
6360 69 G/E 152 rs900886438 0.1577 None gnomAD-4.0.0 3.60097E-06
6361 70 R/S 153 None 0.2724 None gnomAD-4.0.0 1.59354E-06
6363 72 T/A 155 None 0.0922 None gnomAD-4.0.0 2.40064E-06
6363 72 T/I 155 rs148471999 0.0922 None gnomAD-4.0.0 1.30096E-05
6363 72 T/N 155 rs148471999 0.0922 None gnomAD-4.0.0 6.84714E-07
6363 72 T/S 155 rs1560766830 0.0922 None gnomAD-4.0.0 6.84714E-07
6364 73 C/Y 156 None 0.0651 None gnomAD-4.0.0 6.85015E-07
6365 74 Q/R 157 rs762632541 0.2004 None gnomAD-2.1.1 4.05E-06
6365 74 Q/R 157 rs762632541 0.2004 None gnomAD-4.0.0 1.59546E-06
6366 75 A/D 158 None 0.0838 None gnomAD-4.0.0 6.85068E-07
6366 75 A/G 158 None 0.0838 None gnomAD-4.0.0 6.85068E-07
6367 76 K/N 159 rs769617600 0.5360 None gnomAD-2.1.1 8.11E-06
6367 76 K/N 159 rs769617600 0.5360 None gnomAD-4.0.0 1.30189E-05
6368 77 N/S 161 rs748146062 0.1759 None gnomAD-2.1.1 1.22E-05
6368 77 N/S 161 rs748146062 0.1759 None gnomAD-4.0.0 4.79001E-06
6369 78 E/G 162 None 1.0552 None gnomAD-4.0.0 1.20032E-06
6369 78 E/K 162 rs776552344 1.0552 None gnomAD-2.1.1 4.06E-06
6369 78 E/K 162 rs776552344 1.0552 None gnomAD-4.0.0 6.85388E-07
6369 78 E/Q 162 rs776552344 1.0552 None gnomAD-2.1.1 4.06E-06
6369 78 E/Q 162 rs776552344 1.0552 None gnomAD-4.0.0 3.42694E-06
6372 81 V/A 165 rs768519558 0.3716 None gnomAD-2.1.1 8.13E-06
6372 81 V/A 165 rs768519558 0.3716 None gnomAD-3.1.2 6.6E-06
6372 81 V/A 165 rs768519558 0.3716 None gnomAD-4.0.0 3.86539E-06
6372 81 V/G 165 rs768519558 0.3716 None gnomAD-2.1.1 4.06E-06
6372 81 V/G 165 rs768519558 0.3716 None gnomAD-4.0.0 1.60117E-06
6373 82 E/G 166 rs367868361 0.2213 None gnomAD-2.1.1 2.16E-05
6373 82 E/G 166 rs367868361 0.2213 None gnomAD-3.1.2 2.63E-05
6373 82 E/G 166 rs367868361 0.2213 None gnomAD-4.0.0 7.39472E-05
6373 82 E/K 166 rs1310419887 0.2213 None gnomAD-2.1.1 4.07E-06
6375 84 C/G 169 None 0.0621 None gnomAD-4.0.0 1.20032E-06
6376 85 Y/C 171 rs747117289 0.3641 None gnomAD-2.1.1 4.1E-06
6376 85 Y/C 171 rs747117289 0.3641 None gnomAD-4.0.0 1.37537E-06
6377 86 A/T 172 None 0.0733 None gnomAD-4.0.0 1.37633E-06
6377 86 A/V 172 None 0.0733 None gnomAD-4.0.0 1.20032E-06
6379 88 L/F 174 rs1448772446 0.0918 None gnomAD-2.1.1 4.18E-06
6379 88 L/F 174 rs1448772446 0.0918 None gnomAD-4.0.0 1.38444E-06
6381 90 V/E 177 rs983816997 0.1261 None gnomAD-2.1.1 4.21E-06
6381 90 V/E 177 rs983816997 0.1261 None gnomAD-4.0.0 6.93177E-07
6381 90 V/I 177 None 0.1261 None gnomAD-4.0.0 1.20032E-06