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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
35288 3 I/T 3 rs764713884 0.2203 None gnomAD-2.1.1 8.04E-06
35288 3 I/T 3 rs764713884 0.2203 None gnomAD-4.0.0 6.8415E-06
35289 4 T/A 4 rs1381430946 0.3603 None gnomAD-2.1.1 8.04E-06
35289 4 T/A 4 rs1381430946 0.3603 None gnomAD-4.0.0 3.18195E-06
35291 6 F/L 7 rs761215198 0.7567 None gnomAD-3.1.2 6.58E-06
35291 6 F/L 7 rs761215198 0.7567 None gnomAD-4.0.0 2.56216E-06
35291 6 F/V 7 rs761215198 0.7567 None gnomAD-2.1.1 1.21E-05
35291 6 F/V 7 rs761215198 0.7567 None gnomAD-3.1.2 6.58E-06
35291 6 F/V 7 rs761215198 0.7567 None gnomAD-4.0.0 6.40589E-06
35293 8 K/N 9 None 0.5213 None gnomAD-4.0.0 1.20032E-06
35293 8 K/R 9 None 0.5213 None gnomAD-4.0.0 1.20032E-06
35294 9 A/G 11 rs569210689 0.3194 None gnomAD-4.0.0 3.42075E-06
35294 9 A/T 11 rs879080442 0.3194 None gnomAD-2.1.1 4.02E-06
35294 9 A/T 11 rs879080442 0.3194 None gnomAD-3.1.2 6.57E-06
35294 9 A/T 11 rs879080442 0.3194 None gnomAD-4.0.0 1.85899E-06
35294 9 A/V 11 rs569210689 0.3194 None gnomAD-2.1.1 2.01E-05
35294 9 A/V 11 rs569210689 0.3194 None gnomAD-3.1.2 6.57E-06
35294 9 A/V 11 rs569210689 0.3194 None 1000 genomes 1.99681E-04
35294 9 A/V 11 rs569210689 0.3194 None gnomAD-4.0.0 8.05499E-06
35296 11 A/V 14 None 0.7847 None gnomAD-4.0.0 1.20032E-06
35298 13 K/E 18 rs1038411721 0.9410 None gnomAD-4.0.0 1.59097E-06
35299 14 E/D 23 rs886055219 0.9175 None gnomAD-4.0.0 8.20981E-06
35300 15 I/M 24 rs769262485 0.3093 None gnomAD-2.1.1 4.02E-06
35301 16 A/E 28 rs1354185370 0.1791 None gnomAD-4.0.0 6.84151E-07
35301 16 A/V 28 rs1354185370 0.1791 None gnomAD-2.1.1 4.02E-06
35301 16 A/V 28 rs1354185370 0.1791 None gnomAD-4.0.0 1.3683E-06
35302 17 K/N 29 None 0.3103 None gnomAD-4.0.0 1.20032E-06
35303 18 L/P 30 rs369198301 0.1164 None gnomAD-2.1.1 8.03E-06
35303 18 L/P 30 rs369198301 0.1164 None gnomAD-3.1.2 6.57E-06
35303 18 L/P 30 rs369198301 0.1164 None gnomAD-4.0.0 3.84254E-06
35303 18 L/V 30 None 0.1164 None gnomAD-4.0.0 3.18191E-06
35304 19 T/N 31 None 0.2977 None gnomAD-4.0.0 1.20032E-06
35305 20 C/G 33 rs1243651023 0.1165 None gnomAD-2.1.1 4.02E-06
35305 20 C/G 33 rs1243651023 0.1165 None gnomAD-4.0.0 1.59093E-06
35305 20 C/S 33 rs1323470679 0.1165 None gnomAD-2.1.1 4.02E-06
35305 20 C/S 33 rs1323470679 0.1165 None gnomAD-4.0.0 2.05244E-06
35305 20 C/Y 33 rs1323470679 0.1165 None gnomAD-2.1.1 4.02E-06
35305 20 C/Y 33 rs1323470679 0.1165 None gnomAD-4.0.0 6.84148E-07
35306 21 V/M 34 rs1434315858 0.1836 None gnomAD-3.1.2 1.97E-05
35306 21 V/M 34 rs1434315858 0.1836 None gnomAD-4.0.0 1.97135E-05
35307 22 V/A 35 rs780629996 0.1726 None gnomAD-2.1.1 9.64E-05
35307 22 V/A 35 rs780629996 0.1726 None gnomAD-3.1.2 1.77494E-04
35307 22 V/A 35 rs780629996 0.1726 None gnomAD-4.0.0 5.20511E-05
35308 23 E/A 36 rs754935594 0.4110 None gnomAD-2.1.1 4.02E-06
35309 24 S/R 37 rs558833547 0.5226 None gnomAD-2.1.1 8.03E-06
35309 24 S/R 37 rs558833547 0.5226 None 1000 genomes 1.99681E-04
35309 24 S/T 37 None 0.5226 None gnomAD-4.0.0 1.59092E-06
35310 25 S/G 38 None 0.5353 None gnomAD-4.0.0 1.20032E-06
35310 25 S/N 38 rs1553484229 0.5353 None gnomAD-4.0.0 1.59091E-06
35310 25 S/T 38 rs1553484229 0.5353 None gnomAD-4.0.0 1.59091E-06
35311 26 V/I 40 None 0.4443 None gnomAD-4.0.0 4.80129E-06
35313 28 R/G 42 None 0.6699 None gnomAD-4.0.0 2.40064E-06
35313 28 R/S 42 rs1688720188 0.6699 None gnomAD-4.0.0 6.84136E-07
35314 29 A/T 43 rs377171054 0.3655 None gnomAD-2.1.1 8.2E-05
35314 29 A/T 43 rs377171054 0.3655 None gnomAD-3.1.2 1.05158E-04
35314 29 A/T 43 rs377171054 0.3655 None gnomAD-4.0.0 9.29458E-05
35315 30 K/T 44 None 0.5240 None gnomAD-4.0.0 1.59086E-06
35316 31 E/Q 45 None 0.5335 None gnomAD-4.0.0 1.59086E-06
35317 32 V/A 46 rs765504674 0.2644 None gnomAD-2.1.1 4.02E-06
35317 32 V/A 46 rs765504674 0.2644 None gnomAD-4.0.0 1.59086E-06
35318 33 T/N 47 rs1391706140 0.1769 None gnomAD-3.1.2 6.58E-06
35318 33 T/N 47 rs1391706140 0.1769 None gnomAD-4.0.0 6.57505E-06
35318 33 T/S 47 rs1688710616 0.1769 None gnomAD-4.0.0 3.18173E-06
35320 35 Y/C 49 rs1558988630 0.2341 None gnomAD-2.1.1 4.02E-06
35320 35 Y/C 49 rs1558988630 0.2341 None gnomAD-4.0.0 1.36827E-06
35323 38 G/S 52 rs372749780 0.4443 None gnomAD-2.1.1 4.02E-06
35323 38 G/S 52 rs372749780 0.4443 None gnomAD-4.0.0 1.36827E-06
35325 40 K/E 56 None 0.3888 None gnomAD-4.0.0 6.84134E-07
35325 40 K/Q 56 None 0.3888 None gnomAD-4.0.0 6.84134E-07
35326 41 L/P 58 None 0.1656 None gnomAD-4.0.0 1.20032E-06
35327 42 K/M 59 rs1164792965 0.8715 None gnomAD-2.1.1 4.02E-06
35327 42 K/M 59 rs1164792965 0.8715 None gnomAD-4.0.0 1.59088E-06
35331 46 H/N 115 rs753993485 0.2333 None gnomAD-2.1.1 4.02E-06
35331 46 H/N 115 rs753993485 0.2333 None gnomAD-4.0.0 1.59091E-06
35331 46 H/Y 115 None 0.2333 None gnomAD-4.0.0 1.59091E-06
35333 48 Q/H 122 rs764231632 0.4246 None gnomAD-4.0.0 8.8938E-06
35335 50 H/R 125 rs760807951 0.4743 None gnomAD-2.1.1 8.03E-06
35335 50 H/R 125 rs760807951 0.4743 None gnomAD-3.1.2 6.57E-06
35335 50 H/R 125 rs760807951 0.4743 None gnomAD-4.0.0 7.68423E-06
35336 51 Y/D 127 rs935907208 0.8461 None gnomAD-4.0.0 6.84139E-07
35336 51 Y/H 127 None 0.8461 None gnomAD-4.0.0 6.84139E-07
35339 54 D/G 131 rs1688685029 0.8562 None gnomAD-3.1.2 6.57E-06
35339 54 D/G 131 rs1688685029 0.8562 None gnomAD-4.0.0 2.02976E-06
35340 55 G/A 134 rs1688680351 0.1564 None gnomAD-3.1.2 6.57E-06
35340 55 G/A 134 rs1688680351 0.1564 None gnomAD-4.0.0 1.23925E-06
35340 55 G/D 134 None 0.1564 None gnomAD-4.0.0 1.36827E-06
35340 55 G/S 134 rs373610666 0.1564 None gnomAD-2.1.1 4.02E-06
35340 55 G/S 134 rs373610666 0.1564 None gnomAD-4.0.0 2.0524E-06
35342 57 Y/C 136 rs1060500560 0.2722 None gnomAD-2.1.1 4.02E-06
35342 57 Y/C 136 rs1060500560 0.2722 None gnomAD-3.1.2 5.91E-05
35342 57 Y/C 136 rs1060500560 0.2722 None gnomAD-4.0.0 8.05512E-06
35342 57 Y/S 136 rs1060500560 0.2722 None gnomAD-2.1.1 4.02E-06
35342 57 Y/S 136 rs1060500560 0.2722 None gnomAD-4.0.0 1.36829E-06
35343 58 E/K 137 rs774519928 0.2383 None gnomAD-2.1.1 8.03E-06
35343 58 E/K 137 rs774519928 0.2383 None gnomAD-4.0.0 4.77262E-06
35344 59 L/H 138 None 0.0685 None gnomAD-4.0.0 1.59088E-06
35346 61 I/M 140 rs1688672739 0.0868 None gnomAD-3.1.2 6.57E-06
35346 61 I/M 140 rs1688672739 0.0868 None gnomAD-4.0.0 6.5703E-06
35347 62 N/S 141 rs769505255 0.2806 None gnomAD-2.1.1 1.2E-05
35347 62 N/S 141 rs769505255 0.2806 None gnomAD-4.0.0 4.78895E-06
35348 63 N/H 143 rs1688670150 0.8985 None gnomAD-4.0.0 3.18173E-06
35348 63 N/K 143 rs145560044 0.8985 None gnomAD-2.1.1 1.39125E-04
35348 63 N/K 143 rs145560044 0.8985 None gnomAD-3.1.2 5.91E-05
35348 63 N/K 143 rs145560044 0.8985 None gnomAD-4.0.0 4.58522E-05
35349 64 L/F 144 rs1220665174 0.4788 None gnomAD-3.1.2 6.57E-06
35349 64 L/F 144 rs1220665174 0.4788 None gnomAD-4.0.0 6.57151E-06
35349 64 L/I 144 rs1220665174 0.4788 None gnomAD-3.1.2 6.57E-06
35349 64 L/I 144 rs1220665174 0.4788 None gnomAD-4.0.0 6.57151E-06
35350 65 T/I 145 rs1688665396 0.3600 None gnomAD-4.0.0 1.44039E-05
35351 66 E/K 146 rs1688663690 0.9119 None gnomAD-3.1.2 6.57E-06
35351 66 E/K 146 rs1688663690 0.9119 None gnomAD-4.0.0 6.57047E-06
35351 66 E/Q 146 rs1688663690 0.9119 None gnomAD-3.1.2 6.57E-06
35351 66 E/Q 146 rs1688663690 0.9119 None gnomAD-4.0.0 2.56117E-06
35352 67 S/C 148 rs746512551 0.4849 None gnomAD-2.1.1 7.13E-06
35352 67 S/C 148 rs746512551 0.4849 None gnomAD-3.1.2 6.57E-06
35352 67 S/C 148 rs746512551 0.4849 None gnomAD-4.0.0 3.8424E-06
35352 67 S/P 148 rs370094513 0.4849 None gnomAD-2.1.1 3.19E-05
35352 67 S/P 148 rs370094513 0.4849 None gnomAD-3.1.2 1.97E-05
35352 67 S/P 148 rs370094513 0.4849 None gnomAD-4.0.0 5.12317E-06
35352 67 S/Y 148 rs746512551 0.4849 None gnomAD-2.1.1 1.21E-05
35352 67 S/Y 148 rs746512551 0.4849 None gnomAD-4.0.0 4.77271E-06
35353 68 D/G 149 None 0.1255 None gnomAD-4.0.0 1.20032E-06
35353 68 D/H 149 rs780037060 0.1255 None gnomAD-2.1.1 4.02E-06
35353 68 D/H 149 rs780037060 0.1255 None gnomAD-4.0.0 1.59091E-06
35353 68 D/N 149 rs780037060 0.1255 None gnomAD-4.0.0 1.59091E-06
35354 69 Q/R 151 rs546343124 0.4173 None gnomAD-2.1.1 2.01E-05
35354 69 Q/R 151 rs546343124 0.4173 None gnomAD-3.1.2 1.97E-05
35354 69 Q/R 151 rs546343124 0.4173 None 1000 genomes 5.99042E-04
35354 69 Q/R 151 rs546343124 0.4173 None gnomAD-4.0.0 6.40292E-06
35355 70 G/A 152 None 0.1421 None gnomAD-4.0.0 1.59092E-06
35355 70 G/E 152 rs976373370 0.1421 None gnomAD-2.1.1 4.02E-06
35355 70 G/E 152 rs976373370 0.1421 None gnomAD-3.1.2 6.57E-06
35355 70 G/E 152 rs976373370 0.1421 None gnomAD-4.0.0 5.12344E-06
35356 71 E/D 153 None 0.4075 None gnomAD-4.0.0 1.36828E-06
35356 71 E/K 153 rs886055218 0.4075 None gnomAD-2.1.1 4.02E-06
35356 71 E/K 153 rs886055218 0.4075 None gnomAD-4.0.0 1.36829E-06
35357 72 Y/H 154 rs1649011462 0.1133 None gnomAD-3.1.2 6.57E-06
35357 72 Y/H 154 rs1649011462 0.1133 None gnomAD-4.0.0 6.57047E-06
35358 73 V/D 155 rs1172243981 0.1910 None gnomAD-4.0.0 6.84142E-07
35358 73 V/G 155 rs1172243981 0.1910 None gnomAD-2.1.1 4.02E-06
35358 73 V/G 155 rs1172243981 0.1910 None gnomAD-4.0.0 6.84142E-07
35359 74 C/R 156 rs1414538562 0.0873 None gnomAD-2.1.1 3.18E-05
35359 74 C/R 156 rs1414538562 0.0873 None gnomAD-3.1.2 6.57E-06
35359 74 C/R 156 rs1414538562 0.0873 None gnomAD-4.0.0 2.47847E-06
35359 74 C/W 156 None 0.0873 None gnomAD-4.0.0 1.20037E-06
35359 74 C/Y 156 None 0.0873 None gnomAD-4.0.0 1.59092E-06
35360 75 E/D 157 None 0.2007 None gnomAD-4.0.0 1.20032E-06
35360 75 E/Q 157 None 0.2007 None gnomAD-4.0.0 2.05243E-06
35363 78 G/D 161 None 0.2069 None gnomAD-4.0.0 1.59091E-06
35363 78 G/R 161 rs1575217507 0.2069 None gnomAD-3.1.2 1.31E-05
35363 78 G/R 161 rs1575217507 0.2069 None gnomAD-4.0.0 1.31458E-05
35364 79 E/D 162 rs1407917338 0.6560 None gnomAD-3.1.2 6.57E-06
35364 79 E/D 162 rs1407917338 0.6560 None gnomAD-4.0.0 6.56953E-06
35364 79 E/K 162 None 0.6560 None gnomAD-4.0.0 1.20032E-06
35365 80 G/A 163 None 0.8699 None gnomAD-4.0.0 6.84143E-07
35365 80 G/D 163 rs778524334 0.8699 None gnomAD-2.1.1 7.13E-06
35365 80 G/D 163 rs778524334 0.8699 None gnomAD-3.1.2 6.57E-06
35365 80 G/D 163 rs778524334 0.8699 None gnomAD-4.0.0 1.85889E-06
35365 80 G/S 163 None 0.8699 None gnomAD-4.0.0 4.10486E-06
35366 81 G/E 164 None 0.4069 None gnomAD-4.0.0 1.59094E-06
35366 81 G/R 164 rs1267912817 0.4069 None gnomAD-2.1.1 4.02E-06
35366 81 G/R 164 rs1267912817 0.4069 None gnomAD-4.0.0 1.59092E-06
35367 82 T/M 165 rs377056111 0.6179 None gnomAD-2.1.1 4.28E-05
35367 82 T/M 165 rs377056111 0.6179 None gnomAD-3.1.2 4.6E-05
35367 82 T/M 165 rs377056111 0.6179 None gnomAD-4.0.0 1.10918E-04
35370 85 T/A 169 rs910216145 0.1578 None gnomAD-2.1.1 7.13E-06
35370 85 T/A 169 rs910216145 0.1578 None gnomAD-3.1.2 6.57E-06
35370 85 T/A 169 rs910216145 0.1578 None gnomAD-4.0.0 3.71781E-06
35370 85 T/I 169 None 0.1578 None gnomAD-4.0.0 1.20032E-06
35370 85 T/N 169 rs536166568 0.1578 None gnomAD-3.1.2 6.57E-06
35370 85 T/N 169 rs536166568 0.1578 None 1000 genomes 1.99681E-04
35370 85 T/N 169 rs536166568 0.1578 None gnomAD-4.0.0 6.56633E-06
35371 86 N/S 171 rs1200663369 0.5743 None gnomAD-2.1.1 4.02E-06
35373 88 Q/K 173 rs778126842 0.7807 None gnomAD-2.1.1 8.03E-06
35373 88 Q/K 173 rs778126842 0.7807 None gnomAD-4.0.0 6.15732E-06
35374 89 F/Y 174 rs727504609 0.3529 None gnomAD-2.1.1 1.92578E-04
35374 89 F/Y 174 rs727504609 0.3529 None gnomAD-3.1.2 1.05184E-04
35374 89 F/Y 174 rs727504609 0.3529 None gnomAD-4.0.0 1.11539E-04
35375 90 M/I 177 None 0.6178 None gnomAD-4.0.0 1.59093E-06
35375 90 M/T 177 None 0.6178 None gnomAD-4.0.0 2.05244E-06
35375 90 M/V 177 None 0.6178 None gnomAD-4.0.0 1.20032E-06