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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
9301 1 P/L 1 rs372056758 0.2124 None gnomAD-2.1.1 4.1E-06
9301 1 P/L 1 rs372056758 0.2124 None gnomAD-3.1.2 6.58E-06
9302 2 S/P 2 None 0.3423 None gnomAD-4.0.0 6.87657E-07
9302 2 S/T 2 rs1160492654 0.3423 None gnomAD-2.1.1 8.17E-06
9302 2 S/T 2 rs1160492654 0.3423 None gnomAD-3.1.2 6.57E-06
9302 2 S/T 2 rs1160492654 0.3423 None gnomAD-4.0.0 1.86752E-06
9304 4 S/P 4 rs186512181 0.4913 None gnomAD-3.1.2 6.57E-06
9304 4 S/P 4 rs186512181 0.4913 None gnomAD-4.0.0 6.56418E-06
9305 5 R/L 5 None 0.4267 None gnomAD-4.0.0 6.87758E-07
9305 5 R/Q 5 rs397517527 0.4267 None gnomAD-2.1.1 1.95387E-04
9305 5 R/Q 5 rs397517527 0.4267 None gnomAD-3.1.2 1.32E-05
9305 5 R/Q 5 rs397517527 0.4267 None gnomAD-4.0.0 4.17173E-05
9308 8 R/K 9 None 0.7921 None gnomAD-4.0.0 6.85874E-07
9310 10 V/I 13 rs200207722 0.2140 None gnomAD-2.1.1 8.58E-05
9310 10 V/I 13 rs200207722 0.2140 None gnomAD-3.1.2 6.57E-05
9310 10 V/I 13 rs200207722 0.2140 None gnomAD-4.0.0 7.68987E-05
9312 12 E/G 16 None 0.2939 None gnomAD-4.0.0 1.59332E-06
9314 14 V/A 23 rs727505348 0.4448 None gnomAD-2.1.1 4.02E-06
9314 14 V/A 23 rs727505348 0.4448 None gnomAD-4.0.0 8.89693E-06
9314 14 V/D 23 rs727505348 0.4448 None gnomAD-2.1.1 4.02E-06
9314 14 V/D 23 rs727505348 0.4448 None gnomAD-3.1.2 6.57E-06
9314 14 V/D 23 rs727505348 0.4448 None gnomAD-4.0.0 4.33875E-06
9314 14 V/I 23 None 0.4448 None gnomAD-4.0.0 1.59238E-06
9315 15 G/R 24 None 0.2741 None gnomAD-4.0.0 1.59255E-06
9315 15 G/V 24 rs1240808727 0.2741 None gnomAD-2.1.1 4.02E-06
9315 15 G/V 24 rs1240808727 0.2741 None gnomAD-4.0.0 1.59313E-06
9316 16 L/P 25 None 0.4979 None gnomAD-4.0.0 6.84352E-07
9316 16 L/R 25 rs78643968 0.4979 None gnomAD-2.1.1 1.35641E-04
9316 16 L/R 25 rs78643968 0.4979 None gnomAD-3.1.2 3.28E-05
9316 16 L/R 25 rs78643968 0.4979 None gnomAD-4.0.0 2.04514E-05
9317 17 P/T 26 rs2076618020 0.5226 None gnomAD-4.0.0 1.59188E-06
9318 18 V/F 28 rs368920200 0.1414 None gnomAD-2.1.1 8.04E-06
9318 18 V/F 28 rs368920200 0.1414 None gnomAD-3.1.2 6.57E-06
9318 18 V/F 28 rs368920200 0.1414 None gnomAD-4.0.0 2.02987E-06
9319 19 V/I 29 None 0.4139 None gnomAD-4.0.0 1.59204E-06
9320 20 F/S 30 rs765897810 0.1038 None gnomAD-2.1.1 4.02E-06
9320 20 F/S 30 rs765897810 0.1038 None gnomAD-3.1.2 6.57E-06
9320 20 F/S 30 rs765897810 0.1038 None gnomAD-4.0.0 5.12533E-06
9321 21 D/Y 31 rs762498001 0.3884 None gnomAD-4.0.0 4.77797E-06
9322 22 C/S 33 None 0.0743 None gnomAD-4.0.0 1.592E-06
9323 23 A/D 34 rs2076615457 0.1384 None gnomAD-3.1.2 6.57E-06
9323 23 A/D 34 rs2076615457 0.1384 None gnomAD-4.0.0 6.57419E-06
9323 23 A/T 34 rs1313801373 0.1384 None gnomAD-3.1.2 6.57E-06
9323 23 A/T 34 rs1313801373 0.1384 None gnomAD-4.0.0 3.84383E-06
9324 24 I/L 35 None 0.1121 None gnomAD-4.0.0 6.8422E-07
9324 24 I/M 35 None 0.1121 None gnomAD-4.0.0 1.59132E-06
9324 24 I/T 35 rs761548797 0.1121 None gnomAD-2.1.1 4.02E-06
9324 24 I/T 35 rs761548797 0.1121 None gnomAD-4.0.0 1.59129E-06
9324 24 I/V 35 rs765190829 0.1121 None gnomAD-2.1.1 4.02E-06
9324 24 I/V 35 rs765190829 0.1121 None gnomAD-3.1.2 6.57E-06
9324 24 I/V 35 rs765190829 0.1121 None gnomAD-4.0.0 6.81668E-06
9325 25 S/G 38 None 0.3625 None gnomAD-4.0.0 2.40064E-06
9325 25 S/N 38 rs1454560282 0.3625 None gnomAD-3.1.2 6.57E-06
9325 25 S/N 38 rs1454560282 0.3625 None gnomAD-4.0.0 6.57315E-06
9325 25 S/R 38 rs1284567095 0.3625 None gnomAD-3.1.2 6.57E-06
9325 25 S/R 38 rs1284567095 0.3625 None gnomAD-4.0.0 6.57065E-06
9325 25 S/T 38 rs1454560282 0.3625 None gnomAD-2.1.1 4.02E-06
9326 26 G/E 40 None 0.4689 None gnomAD-4.0.0 6.84197E-07
9326 26 G/V 40 rs374592087 0.4689 None gnomAD-2.1.1 4.02E-06
9326 26 G/V 40 rs374592087 0.4689 None gnomAD-4.0.0 6.84197E-07
9328 28 E/D 42 rs1577830171 0.9042 None gnomAD-4.0.0 1.5911E-06
9329 29 P/L 43 rs1162784959 0.6857 None gnomAD-2.1.1 4.01E-06
9330 30 I/M 44 rs370277987 0.2007 None gnomAD-2.1.1 4.01E-06
9330 30 I/M 44 rs370277987 0.2007 None gnomAD-3.1.2 6.57E-06
9330 30 I/M 44 rs370277987 0.2007 None gnomAD-4.0.0 1.79707E-05
9330 30 I/V 44 rs768696299 0.2007 None gnomAD-2.1.1 1.07E-05
9330 30 I/V 44 rs768696299 0.2007 None gnomAD-3.1.2 3.29E-05
9330 30 I/V 44 rs768696299 0.2007 None gnomAD-4.0.0 5.57706E-06
9331 31 S/A 45 None 0.4136 None gnomAD-4.0.0 1.36836E-06
9332 32 V/M 46 rs367734747 0.2828 None gnomAD-3.1.2 6.57E-06
9332 32 V/M 46 rs367734747 0.2828 None gnomAD-4.0.0 4.33785E-06
9333 33 S/C 47 None 0.3679 None gnomAD-4.0.0 1.59109E-06
9334 34 W/C 48 rs555411623 0.1421 None gnomAD-3.1.2 6.58E-06
9334 34 W/C 48 rs555411623 0.1421 None 1000 genomes 1.99681E-04
9334 34 W/C 48 rs555411623 0.1421 None gnomAD-4.0.0 6.57168E-06
9334 34 W/S 48 None 0.1421 None gnomAD-4.0.0 6.84175E-07
9335 35 Y/C 49 rs745989523 0.3218 None gnomAD-2.1.1 4.01E-06
9335 35 Y/C 49 rs745989523 0.3218 None gnomAD-4.0.0 1.59108E-06
9335 35 Y/N 49 None 0.3218 None gnomAD-4.0.0 1.20032E-06
9337 37 D/E 51 rs757848062 0.5008 None gnomAD-2.1.1 4.01E-06
9337 37 D/E 51 rs757848062 0.5008 None gnomAD-4.0.0 6.84175E-07
9338 38 G/S 52 rs373598759 0.4518 None gnomAD-2.1.1 2.81E-05
9338 38 G/S 52 rs373598759 0.4518 None gnomAD-3.1.2 6.58E-06
9338 38 G/S 52 rs373598759 0.4518 None gnomAD-4.0.0 3.96609E-05
9339 39 K/R 55 rs878989601 0.7618 None gnomAD-3.1.2 6.57E-06
9339 39 K/R 55 rs878989601 0.7618 None gnomAD-4.0.0 6.57117E-06
9344 44 S/R 73 rs1338895544 0.2771 None gnomAD-2.1.1 4.01E-06
9344 44 S/R 73 rs1338895544 0.2771 None gnomAD-4.0.0 6.84182E-07
9345 45 P/A 102 None 0.8443 None gnomAD-4.0.0 1.20032E-06
9347 47 V/A 121 None 0.1843 None gnomAD-4.0.0 1.5911E-06
9347 47 V/L 121 rs1382932532 0.1843 None gnomAD-2.1.1 4.01E-06
9347 47 V/L 121 rs1382932532 0.1843 None gnomAD-4.0.0 1.59109E-06
9348 48 Q/E 122 rs794727987 0.4420 None gnomAD-2.1.1 3.19E-05
9348 48 Q/E 122 rs794727987 0.4420 None gnomAD-3.1.2 3.95E-05
9348 48 Q/E 122 rs794727987 0.4420 None gnomAD-4.0.0 4.33796E-06
9348 48 Q/H 122 None 0.4420 None gnomAD-4.0.0 6.84179E-07
9348 48 Q/K 122 None 0.4420 None gnomAD-4.0.0 1.36836E-06
9348 48 Q/R 122 rs1414782408 0.4420 None gnomAD-3.1.2 6.57E-06
9348 48 Q/R 122 rs1414782408 0.4420 None gnomAD-4.0.0 6.57281E-06
9349 49 T/A 123 None 0.3258 None gnomAD-4.0.0 1.20032E-06
9349 49 T/I 123 rs749966898 0.3258 None gnomAD-2.1.1 4.01E-06
9349 49 T/I 123 rs749966898 0.3258 None gnomAD-4.0.0 4.77332E-06
9350 50 S/P 125 rs949256276 0.4396 None gnomAD-2.1.1 4.01E-06
9350 50 S/P 125 rs949256276 0.4396 None gnomAD-4.0.0 1.59112E-06
9350 50 S/T 125 None 0.4396 None gnomAD-4.0.0 1.59112E-06
9351 51 F/L 127 None 0.3447 None gnomAD-4.0.0 3.60097E-06
9352 52 L/S 130 rs776487201 0.8010 None gnomAD-2.1.1 1.40515E-04
9352 52 L/S 130 rs776487201 0.8010 None gnomAD-3.1.2 6.57E-06
9352 52 L/S 130 rs776487201 0.8010 None gnomAD-4.0.0 2.41676E-05
9354 54 N/S 134 None 0.5397 None gnomAD-4.0.0 1.20032E-06
9355 55 T/I 135 rs763942844 0.2790 None gnomAD-2.1.1 4.02E-06
9355 55 T/I 135 rs763942844 0.2790 None gnomAD-4.0.0 4.78929E-06
9356 56 A/P 136 None 0.0809 None gnomAD-4.0.0 3.42091E-06
9356 56 A/T 136 rs2076600862 0.0809 None gnomAD-4.0.0 2.05255E-06
9357 57 T/A 137 None 0.2618 None gnomAD-4.0.0 6.8418E-07
9357 57 T/I 137 rs144930507 0.2618 None gnomAD-2.1.1 5.45707E-04
9357 57 T/I 137 rs144930507 0.2618 None gnomAD-3.1.2 1.80762E-03
9357 57 T/I 137 rs144930507 0.2618 None 1000 genomes 2.39617E-03
9357 57 T/I 137 rs144930507 0.2618 None gnomAD-4.0.0 3.20352E-04
9357 57 T/P 137 None 0.2618 None gnomAD-4.0.0 6.8418E-07
9358 58 L/F 138 rs1266271972 0.0676 None gnomAD-2.1.1 4.02E-06
9358 58 L/F 138 rs1266271972 0.0676 None gnomAD-4.0.0 1.59111E-06
9359 59 N/I 139 None 0.3493 None gnomAD-4.0.0 6.84185E-07
9359 59 N/S 139 rs794727988 0.3493 None gnomAD-3.1.2 6.57E-06
9359 59 N/S 139 rs794727988 0.3493 None gnomAD-4.0.0 1.23935E-06
9360 60 I/S 140 rs745880964 0.0880 None gnomAD-2.1.1 1.43E-05
9360 60 I/S 140 rs745880964 0.0880 None gnomAD-3.1.2 6.57E-06
9360 60 I/S 140 rs745880964 0.0880 None gnomAD-4.0.0 6.40467E-06
9360 60 I/V 140 rs2076598524 0.0880 None gnomAD-4.0.0 6.84185E-06
9362 62 K/E 143 rs774589686 0.7017 None gnomAD-2.1.1 4.02E-06
9362 62 K/E 143 rs774589686 0.7017 None gnomAD-3.1.2 6.57E-06
9362 62 K/E 143 rs774589686 0.7017 None gnomAD-4.0.0 8.11935E-06
9363 63 T/I 144 rs1430247866 0.1541 None gnomAD-3.1.2 6.57E-06
9363 63 T/I 144 rs1430247866 0.1541 None gnomAD-4.0.0 6.57168E-06
9363 63 T/N 144 rs1430247866 0.1541 None gnomAD-2.1.1 3.18E-05
9363 63 T/N 144 rs1430247866 0.1541 None gnomAD-3.1.2 6.57E-06
9363 63 T/N 144 rs1430247866 0.1541 None gnomAD-4.0.0 6.57168E-06
9364 64 D/E 145 rs771195179 0.3287 None gnomAD-2.1.1 9.55E-05
9364 64 D/E 145 rs771195179 0.3287 None gnomAD-3.1.2 3.29E-05
9364 64 D/E 145 rs771195179 0.3287 None gnomAD-4.0.0 6.84195E-07
9364 64 D/H 145 None 0.3287 None gnomAD-4.0.0 3.18241E-06
9365 65 R/G 146 None 0.7463 None gnomAD-4.0.0 1.36839E-06
9365 65 R/P 146 None 0.7463 None gnomAD-4.0.0 6.84204E-07
9365 65 R/Q 146 rs570608843 0.7463 None gnomAD-2.1.1 4.28E-05
9365 65 R/Q 146 rs570608843 0.7463 None gnomAD-3.1.2 4.6E-05
9365 65 R/Q 146 rs570608843 0.7463 None 1000 genomes 1.99681E-04
9365 65 R/Q 146 rs570608843 0.7463 None gnomAD-4.0.0 7.18818E-05
9365 65 R/W 146 rs190600127 0.7463 None gnomAD-2.1.1 1.32653E-04
9365 65 R/W 146 rs190600127 0.7463 None gnomAD-3.1.2 6.57E-05
9365 65 R/W 146 rs190600127 0.7463 None 1000 genomes 3.99361E-04
9365 65 R/W 146 rs190600127 0.7463 None gnomAD-4.0.0 4.77129E-05
9366 66 S/C 148 rs1577827132 0.4580 None gnomAD-4.0.0 1.59117E-06
9366 66 S/R 148 rs374930292 0.4580 None gnomAD-2.1.1 8.04E-06
9366 66 S/R 148 rs374930292 0.4580 None gnomAD-3.1.2 6.57E-05
9366 66 S/R 148 rs374930292 0.4580 None gnomAD-4.0.0 8.67551E-06
9367 67 L/F 149 rs748483786 0.2028 None gnomAD-2.1.1 1.43E-05
9367 67 L/F 149 rs748483786 0.2028 None gnomAD-3.1.2 2.63E-05
9367 67 L/F 149 rs748483786 0.2028 None gnomAD-4.0.0 2.23083E-05
9368 68 A/E 151 rs1299434800 0.2318 None gnomAD-2.1.1 4.02E-06
9368 68 A/E 151 rs1299434800 0.2318 None gnomAD-4.0.0 1.20032E-05
9369 69 G/D 152 None 0.2022 None gnomAD-4.0.0 1.20032E-06
9369 69 G/S 152 None 0.2022 None gnomAD-4.0.0 1.59134E-06
9373 73 C/G 156 rs758050033 0.0626 None gnomAD-2.1.1 4.02E-06
9373 73 C/G 156 rs758050033 0.0626 None gnomAD-3.1.2 6.57E-06
9373 73 C/G 156 rs758050033 0.0626 None gnomAD-4.0.0 4.95756E-06
9373 73 C/R 156 rs758050033 0.0626 None gnomAD-2.1.1 4.02E-06
9373 73 C/R 156 rs758050033 0.0626 None gnomAD-4.0.0 6.84244E-07
9374 74 T/A 157 rs886038863 0.2216 None gnomAD-3.1.2 6.57E-06
9374 74 T/A 157 rs886038863 0.2216 None gnomAD-4.0.0 5.07447E-06
9374 74 T/I 157 rs878939055 0.2216 None gnomAD-2.1.1 4.03E-06
9374 74 T/I 157 rs878939055 0.2216 None gnomAD-4.0.0 1.5917E-06
9375 75 A/S 158 rs939996965 0.0874 None gnomAD-4.0.0 1.59209E-06
9375 75 A/T 158 rs939996965 0.0874 None gnomAD-4.0.0 1.59209E-06
9375 75 A/V 158 None 0.0874 None gnomAD-4.0.0 1.59195E-06
9376 76 T/A 159 None 0.3284 None gnomAD-4.0.0 3.18384E-06
9376 76 T/K 159 None 0.3284 None gnomAD-4.0.0 6.84347E-07
9376 76 T/R 159 rs749875409 0.3284 None gnomAD-2.1.1 3.22E-05
9376 76 T/R 159 rs749875409 0.3284 None gnomAD-4.0.0 1.64243E-05
9377 77 N/K 161 rs72648997 0.1722 None gnomAD-2.1.1 2.02E-05
9377 77 N/K 161 rs72648997 0.1722 None gnomAD-3.1.2 1.97E-05
9377 77 N/K 161 rs72648997 0.1722 None gnomAD-4.0.0 4.95891E-06
9377 77 N/S 161 None 0.1722 None gnomAD-4.0.0 1.59238E-06
9378 78 P/S 162 rs879082824 0.6609 None gnomAD-3.1.2 1.31E-05
9378 78 P/S 162 rs879082824 0.6609 None gnomAD-4.0.0 6.20008E-06
9379 79 I/M 163 rs1060500516 0.9365 None gnomAD-2.1.1 2.15E-05
9379 79 I/M 163 rs1060500516 0.9365 None gnomAD-3.1.2 2.63E-05
9379 79 I/M 163 rs1060500516 0.9365 None gnomAD-4.0.0 1.98447E-05
9379 79 I/T 163 None 0.9365 None gnomAD-4.0.0 1.59446E-06
9379 79 I/V 163 rs1220876999 0.9365 None gnomAD-4.0.0 1.59433E-06
9380 80 G/R 164 rs370785476 0.2726 None gnomAD-2.1.1 1.08E-05
9380 80 G/R 164 rs370785476 0.2726 None gnomAD-3.1.2 3.29E-05
9380 80 G/R 164 rs370785476 0.2726 None gnomAD-4.0.0 6.09E-06
9381 81 S/C 165 rs763983068 0.5331 None gnomAD-2.1.1 4.12E-06
9381 81 S/C 165 rs763983068 0.5331 None gnomAD-3.1.2 1.97E-05
9381 81 S/C 165 rs763983068 0.5331 None gnomAD-4.0.0 1.30878E-05
9381 81 S/P 165 rs1376908968 0.5331 None gnomAD-2.1.1 4.12E-06
9381 81 S/P 165 rs1376908968 0.5331 None gnomAD-4.0.0 6.88643E-07
9382 82 A/G 166 None 0.1852 None gnomAD-4.0.0 3.23474E-06
9383 83 S/A 168 rs1197465402 0.3361 None gnomAD-2.1.1 3.18E-05
9383 83 S/A 168 rs1197465402 0.3361 None gnomAD-4.0.0 1.62003E-06
9383 83 S/F 168 rs1323755487 0.3361 None gnomAD-2.1.1 6.37E-05
9383 83 S/F 168 rs1323755487 0.3361 None gnomAD-3.1.2 1.31E-05
9383 83 S/F 168 rs1323755487 0.3361 None gnomAD-4.0.0 1.31406E-05
9384 84 S/C 169 rs760466007 0.0987 None gnomAD-2.1.1 4.2E-06
9384 84 S/C 169 rs760466007 0.0987 None gnomAD-3.1.2 1.31E-05
9384 84 S/C 169 rs760466007 0.0987 None gnomAD-4.0.0 5.63418E-06
9384 84 S/F 169 rs760466007 0.0987 None gnomAD-3.1.2 6.57E-06
9384 84 S/F 169 rs760466007 0.0987 None gnomAD-4.0.0 6.57108E-06
9385 85 S/N 171 rs945228543 0.3311 None gnomAD-2.1.1 4.25E-06
9385 85 S/N 171 rs945228543 0.3311 None gnomAD-3.1.2 6.57E-06
9385 85 S/N 171 rs945228543 0.3311 None gnomAD-4.0.0 4.39068E-06
9385 85 S/R 171 rs2076586234 0.3311 None gnomAD-4.0.0 1.20032E-06
9386 86 A/S 172 None 0.0881 None gnomAD-4.0.0 1.64315E-06
9386 86 A/V 172 rs2076585967 0.0881 None gnomAD-4.0.0 1.20032E-06
9387 87 R/S 173 None 0.5274 None gnomAD-4.0.0 1.65249E-06
9389 89 I/L 175 rs1577825049 0.2704 None gnomAD-3.1.2 6.57E-06
9389 89 I/L 175 rs1577825049 0.2704 None gnomAD-4.0.0 6.56961E-06
9389 89 I/V 175 rs1577825049 0.2704 None gnomAD-3.1.2 6.57E-06
9389 89 I/V 175 rs1577825049 0.2704 None gnomAD-4.0.0 4.42798E-06
9390 90 L/I 177 None 0.2772 None gnomAD-4.0.0 1.68155E-06