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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
23346 2 L/I 2 None 0.1981 None gnomAD-4.0.0 6.84332E-07
23347 3 D/G 3 rs1484649738 0.5658 None gnomAD-3.1.2 6.58E-06
23347 3 D/G 3 rs1484649738 0.5658 None gnomAD-4.0.0 6.57626E-06
23347 3 D/H 3 rs371752797 0.5658 None gnomAD-2.1.1 3.57E-05
23347 3 D/H 3 rs371752797 0.5658 None gnomAD-3.1.2 3.29E-05
23347 3 D/H 3 rs371752797 0.5658 None gnomAD-4.0.0 6.13619E-05
23348 4 A/T 4 rs775146212 0.4296 None gnomAD-2.1.1 1.28616E-04
23348 4 A/T 4 rs775146212 0.4296 None gnomAD-3.1.2 7.89E-05
23348 4 A/T 4 rs775146212 0.4296 None gnomAD-4.0.0 3.59475E-05
23349 5 E/D 5 rs774136558 0.7898 None gnomAD-2.1.1 3.57E-05
23349 5 E/D 5 rs774136558 0.7898 None gnomAD-3.1.2 1.32E-05
23349 5 E/D 5 rs774136558 0.7898 None gnomAD-4.0.0 5.57836E-06
23349 5 E/K 5 rs397517682 0.7898 None gnomAD-2.1.1 1.07E-05
23349 5 E/K 5 rs397517682 0.7898 None gnomAD-3.1.2 6.58E-06
23349 5 E/K 5 rs397517682 0.7898 None gnomAD-4.0.0 4.95879E-06
23350 6 L/F 7 rs1390481050 0.2050 None gnomAD-2.1.1 4.02E-06
23350 6 L/F 7 rs1390481050 0.2050 None gnomAD-4.0.0 2.05299E-06
23351 7 R/L 8 rs376046188 0.4804 None gnomAD-2.1.1 4.02E-06
23351 7 R/L 8 rs376046188 0.4804 None gnomAD-4.0.0 1.36864E-06
23351 7 R/P 8 None 0.4804 None gnomAD-4.0.0 6.84318E-07
23351 7 R/Q 8 rs376046188 0.4804 None gnomAD-2.1.1 2.41E-05
23351 7 R/Q 8 rs376046188 0.4804 None gnomAD-3.1.2 1.32E-05
23351 7 R/Q 8 rs376046188 0.4804 None gnomAD-4.0.0 8.6772E-06
23352 8 R/G 9 rs755983483 0.7474 None gnomAD-2.1.1 4.02E-06
23352 8 R/G 9 rs755983483 0.7474 None gnomAD-4.0.0 1.36862E-06
23352 8 R/I 9 None 0.7474 None gnomAD-4.0.0 6.84313E-07
23352 8 R/K 9 rs555933077 0.7474 None gnomAD-2.1.1 1.61E-05
23352 8 R/K 9 rs555933077 0.7474 None gnomAD-3.1.2 6.58E-06
23352 8 R/K 9 rs555933077 0.7474 None 1000 genomes 1.99681E-04
23352 8 R/K 9 rs555933077 0.7474 None gnomAD-4.0.0 6.15882E-06
23353 9 T/I 11 rs1709976943 0.4361 None gnomAD-3.1.2 6.58E-06
23353 9 T/I 11 rs1709976943 0.4361 None gnomAD-4.0.0 6.57678E-06
23354 10 L/P 13 None 0.3277 None gnomAD-4.0.0 1.59181E-06
23354 10 L/R 13 None 0.3277 None gnomAD-4.0.0 1.59181E-06
23355 11 V/F 14 rs1249051519 0.4126 None gnomAD-4.0.0 4.10584E-06
23355 11 V/I 14 rs1249051519 0.4126 None gnomAD-2.1.1 4.02E-06
23355 11 V/I 14 rs1249051519 0.4126 None gnomAD-4.0.0 6.84306E-07
23355 11 V/L 14 None 0.4126 None gnomAD-4.0.0 6.84306E-07
23356 12 V/I 16 rs1207836218 0.1753 None gnomAD-2.1.1 4.02E-06
23356 12 V/I 16 rs1207836218 0.1753 None gnomAD-4.0.0 6.36697E-06
23357 13 R/K 18 rs375401995 0.7306 None gnomAD-2.1.1 4.02E-06
23357 13 R/T 18 rs375401995 0.7306 None gnomAD-2.1.1 8.05E-06
23357 13 R/T 18 rs375401995 0.7306 None gnomAD-3.1.2 6.58E-06
23357 13 R/T 18 rs375401995 0.7306 None gnomAD-4.0.0 8.05747E-06
23360 16 L/F 25 None 0.5764 None gnomAD-4.0.0 6.84307E-06
23361 17 S/G 26 rs751707858 0.3012 None gnomAD-2.1.1 4.02E-06
23361 17 S/G 26 rs751707858 0.3012 None gnomAD-3.1.2 6.57E-06
23361 17 S/G 26 rs751707858 0.3012 None gnomAD-4.0.0 3.09898E-06
23361 17 S/N 26 rs1433418101 0.3012 None gnomAD-4.0.0 1.5918E-06
23361 17 S/R 26 None 0.3012 None gnomAD-4.0.0 6.84312E-07
23362 18 I/L 28 rs372048460 0.1223 None gnomAD-2.1.1 4.02E-06
23362 18 I/L 28 rs372048460 0.1223 None gnomAD-4.0.0 5.47447E-06
23362 18 I/T 28 rs750943570 0.1223 None gnomAD-2.1.1 4.02E-06
23362 18 I/T 28 rs750943570 0.1223 None gnomAD-4.0.0 2.05292E-06
23364 20 I/L 30 rs1709965793 0.1173 None gnomAD-4.0.0 2.05294E-06
23366 22 V/A 33 rs372782502 0.0977 None gnomAD-2.1.1 3.01745E-04
23366 22 V/A 33 rs372782502 0.0977 None gnomAD-3.1.2 5.26E-05
23366 22 V/A 33 rs372782502 0.0977 None 1000 genomes 9.98403E-04
23366 22 V/A 33 rs372782502 0.0977 None gnomAD-4.0.0 1.12193E-04
23366 22 V/E 33 rs372782502 0.0977 None gnomAD-2.1.1 3.19E-05
23366 22 V/E 33 rs372782502 0.0977 None gnomAD-3.1.2 6.58E-06
23366 22 V/E 33 rs372782502 0.0977 None gnomAD-4.0.0 1.23979E-06
23366 22 V/M 33 rs1238454141 0.0977 None gnomAD-2.1.1 4.02E-06
23366 22 V/M 33 rs1238454141 0.0977 None gnomAD-4.0.0 4.77649E-06
23367 23 P/L 34 None 0.3605 None gnomAD-4.0.0 1.20032E-06
23368 24 I/N 35 None 0.1052 None gnomAD-4.0.0 1.20032E-06
23368 24 I/V 35 rs367914610 0.1052 None gnomAD-2.1.1 9.65E-05
23368 24 I/V 35 rs367914610 0.1052 None gnomAD-3.1.2 5.26E-05
23368 24 I/V 35 rs367914610 0.1052 None gnomAD-4.0.0 8.98834E-05
23369 25 K/E 38 rs1277463353 0.7227 None gnomAD-4.0.0 1.59238E-06
23370 26 G/D 40 rs1372713604 0.1398 None gnomAD-3.1.2 6.58E-06
23370 26 G/D 40 rs1372713604 0.1398 None gnomAD-4.0.0 1.23988E-06
23371 27 R/C 41 rs56141309 0.4104 None gnomAD-2.1.1 8.05E-06
23371 27 R/C 41 rs56141309 0.4104 None gnomAD-3.1.2 6.58E-06
23371 27 R/C 41 rs56141309 0.4104 None gnomAD-4.0.0 6.41267E-06
23371 27 R/H 41 rs767208489 0.4104 None gnomAD-2.1.1 8.05E-06
23371 27 R/H 41 rs767208489 0.4104 None gnomAD-3.1.2 2.63E-05
23371 27 R/H 41 rs767208489 0.4104 None gnomAD-4.0.0 9.92059E-06
23371 27 R/P 41 rs767208489 0.4104 None gnomAD-3.1.2 6.58E-06
23371 27 R/P 41 rs767208489 0.4104 None gnomAD-4.0.0 4.96029E-06
23371 27 R/S 41 None 0.4104 None gnomAD-4.0.0 3.18647E-06
23372 28 P/L 42 rs1709955188 0.4979 None gnomAD-4.0.0 1.59332E-06
23373 29 A/V 43 None 0.3781 None gnomAD-4.0.0 2.40064E-06
23374 30 P/H 44 None 0.1720 None gnomAD-4.0.0 2.05417E-06
23378 34 W/R 48 rs1709952392 0.1712 None gnomAD-4.0.0 6.84881E-07
23378 34 W/S 48 rs1172742481 0.1712 None gnomAD-2.1.1 4.03E-06
23378 34 W/S 48 rs1172742481 0.1712 None gnomAD-4.0.0 1.59514E-06
23379 35 T/A 49 None 0.2493 None gnomAD-4.0.0 1.59481E-06
23379 35 T/I 49 rs773975500 0.2493 None gnomAD-2.1.1 2.42E-05
23379 35 T/I 49 rs773975500 0.2493 None gnomAD-4.0.0 6.84935E-06
23380 36 K/R 50 None 0.1518 None gnomAD-4.0.0 1.20032E-06
23381 37 D/N 51 rs1559456668 0.6565 None gnomAD-4.0.0 3.19209E-06
23382 38 N/D 52 None 0.9812 None gnomAD-4.0.0 1.59643E-06
23383 39 I/M 55 None 0.6890 None gnomAD-4.0.0 1.59681E-06
23383 39 I/N 55 rs1197503879 0.6890 None gnomAD-3.1.2 6.58E-06
23383 39 I/N 55 rs1197503879 0.6890 None gnomAD-4.0.0 1.24111E-06
23383 39 I/T 55 None 0.6890 None gnomAD-4.0.0 6.85202E-07
23383 39 I/V 55 rs773301754 0.6890 None gnomAD-2.1.1 8.05E-06
23383 39 I/V 55 rs773301754 0.6890 None gnomAD-4.0.0 3.19286E-06
23385 41 L/M 58 rs769672151 0.1409 None gnomAD-2.1.1 4.02E-06
23385 41 L/M 58 rs769672151 0.1409 None gnomAD-4.0.0 6.85221E-07
23385 41 L/P 58 rs747995899 0.1409 None gnomAD-2.1.1 4.02E-06
23385 41 L/P 58 rs747995899 0.1409 None gnomAD-4.0.0 2.74122E-06
23385 41 L/V 58 rs769672151 0.1409 None gnomAD-2.1.1 4.02E-06
23385 41 L/V 58 rs769672151 0.1409 None gnomAD-4.0.0 1.37044E-06
23387 43 N/K 70 None 1.0588 None gnomAD-4.0.0 4.79114E-06
23388 44 R/G 73 rs781540455 0.2712 None gnomAD-2.1.1 7.15E-06
23388 44 R/G 73 rs781540455 0.2712 None gnomAD-3.1.2 1.97E-05
23388 44 R/G 73 rs781540455 0.2712 None gnomAD-4.0.0 6.20683E-06
23388 44 R/Q 73 rs55853138 0.2712 None gnomAD-2.1.1 6.07E-05
23388 44 R/Q 73 rs55853138 0.2712 None gnomAD-3.1.2 7.23E-05
23388 44 R/Q 73 rs55853138 0.2712 None gnomAD-4.0.0 6.33061E-05
23389 45 A/G 121 rs1194442496 0.1282 None gnomAD-3.1.2 1.32E-05
23389 45 A/G 121 rs1194442496 0.1282 None gnomAD-4.0.0 1.31543E-05
23389 45 A/T 121 rs1709937178 0.1282 None gnomAD-4.0.0 1.20032E-06
23390 46 N/H 122 None 0.5570 None gnomAD-4.0.0 1.59651E-06
23390 46 N/S 122 rs747202126 0.5570 None gnomAD-2.1.1 4.02E-06
23390 46 N/S 122 rs747202126 0.5570 None gnomAD-4.0.0 2.05553E-06
23391 47 I/M 123 rs1376271320 0.2346 None gnomAD-2.1.1 3.19E-05
23391 47 I/M 123 rs1376271320 0.2346 None gnomAD-4.0.0 1.59691E-06
23391 47 I/N 123 None 0.2346 None gnomAD-4.0.0 6.85241E-07
23391 47 I/T 123 rs375202101 0.2346 None gnomAD-2.1.1 2.5E-05
23391 47 I/T 123 rs375202101 0.2346 None gnomAD-3.1.2 5.92E-05
23391 47 I/T 123 rs375202101 0.2346 None gnomAD-4.0.0 2.29615E-05
23393 49 N/K 127 rs1040909022 0.4686 None gnomAD-4.0.0 1.59653E-06
23393 49 N/T 127 rs1709929760 0.4686 None gnomAD-3.1.2 1.31E-05
23393 49 N/T 127 rs1709929760 0.4686 None gnomAD-4.0.0 1.31463E-05
23394 50 T/A 130 None 0.2731 None gnomAD-4.0.0 1.59623E-06
23394 50 T/M 130 rs397517683 0.2731 None gnomAD-2.1.1 2.41E-05
23394 50 T/M 130 rs397517683 0.2731 None gnomAD-3.1.2 1.32E-05
23394 50 T/M 130 rs397517683 0.2731 None gnomAD-4.0.0 3.16485E-05
23397 53 F/C 135 rs1409813527 0.1987 None gnomAD-4.0.0 7.53357E-06
23397 53 F/L 135 rs1445569607 0.1987 None gnomAD-2.1.1 4.02E-06
23397 53 F/L 135 rs1445569607 0.1987 None gnomAD-4.0.0 1.59584E-06
23398 54 T/N 136 None 0.0895 None gnomAD-4.0.0 6.84825E-07
23398 54 T/S 136 rs1709923349 0.0895 None gnomAD-4.0.0 1.36965E-06
23402 58 I/T 140 None 0.0837 None gnomAD-4.0.0 2.73739E-06
23403 59 P/S 141 rs1399743496 0.4477 None gnomAD-4.0.0 1.59203E-06
23405 61 C/S 144 rs1709915221 0.0774 None gnomAD-3.1.2 6.58E-06
23405 61 C/S 144 rs1709915221 0.0774 None gnomAD-4.0.0 6.57523E-06
23406 62 N/K 145 rs757600380 0.2997 None gnomAD-4.0.0 1.59168E-06
23407 63 R/K 146 rs1417805989 0.6216 None gnomAD-2.1.1 4.02E-06
23407 63 R/K 146 rs1417805989 0.6216 None gnomAD-4.0.0 3.18337E-06
23408 64 Y/C 148 None 0.7294 None gnomAD-4.0.0 1.59164E-06
23408 64 Y/H 148 rs754261585 0.7294 None gnomAD-2.1.1 4.02E-06
23408 64 Y/H 148 rs754261585 0.7294 None gnomAD-4.0.0 2.05284E-06
23409 65 D/G 149 rs1709909119 0.1450 None gnomAD-4.0.0 1.7107E-05
23410 66 T/N 151 rs1473979874 0.3416 None gnomAD-2.1.1 4.02E-06
23410 66 T/N 151 rs1473979874 0.3416 None gnomAD-4.0.0 1.36855E-06
23411 67 G/S 152 rs767075037 0.2112 None gnomAD-2.1.1 8.04E-06
23411 67 G/S 152 rs767075037 0.2112 None gnomAD-3.1.2 6.58E-06
23411 67 G/S 152 rs767075037 0.2112 None gnomAD-4.0.0 9.29723E-06
23414 70 V/F 155 rs759158138 0.2654 None gnomAD-2.1.1 1.21E-05
23414 70 V/F 155 rs759158138 0.2654 None gnomAD-4.0.0 4.77493E-06
23415 71 M/L 156 rs200029470 0.0734 None gnomAD-2.1.1 8.04E-06
23415 71 M/L 156 rs200029470 0.0734 None gnomAD-3.1.2 1.97E-05
23415 71 M/L 156 rs200029470 0.0734 None gnomAD-4.0.0 1.05354E-05
23415 71 M/T 156 rs765861604 0.0734 None gnomAD-2.1.1 4.02E-06
23415 71 M/T 156 rs765861604 0.0734 None gnomAD-4.0.0 4.7749E-06
23416 72 T/N 157 rs762398059 0.2206 None gnomAD-2.1.1 4.02E-06
23416 72 T/N 157 rs762398059 0.2206 None gnomAD-4.0.0 1.59168E-06
23417 73 I/T 158 rs201836227 0.0698 None gnomAD-2.1.1 3.14059E-04
23417 73 I/T 158 rs201836227 0.0698 None gnomAD-3.1.2 7.43382E-04
23417 73 I/T 158 rs201836227 0.0698 None 1000 genomes 3.99361E-04
23417 73 I/T 158 rs201836227 0.0698 None gnomAD-4.0.0 1.58661E-04
23418 74 E/K 159 None 0.3965 None gnomAD-4.0.0 2.05285E-06
23419 75 N/H 161 None 0.1129 None gnomAD-4.0.0 2.40064E-06
23419 75 N/I 161 None 0.1129 None gnomAD-4.0.0 1.59169E-06
23419 75 N/K 161 rs374496130 0.1129 None gnomAD-4.0.0 6.84284E-07
23420 76 P/L 162 rs776633672 0.7186 None gnomAD-2.1.1 3.22E-05
23420 76 P/L 162 rs776633672 0.7186 None gnomAD-3.1.2 1.97E-05
23420 76 P/L 162 rs776633672 0.7186 None gnomAD-4.0.0 1.17766E-05
23422 78 G/R 164 rs780170483 0.2316 None gnomAD-2.1.1 4.02E-06
23422 78 G/R 164 rs780170483 0.2316 None gnomAD-3.1.2 6.58E-06
23422 78 G/R 164 rs780170483 0.2316 None gnomAD-4.0.0 6.57609E-06
23423 79 K/R 165 None 0.4856 None gnomAD-4.0.0 1.20032E-06
23424 80 K/T 166 None 0.2080 None gnomAD-4.0.0 1.20032E-06
23425 81 S/C 168 rs566232507 0.4039 None gnomAD-2.1.1 4.02E-06
23425 81 S/C 168 rs566232507 0.4039 None gnomAD-3.1.2 6.58E-06
23425 81 S/C 168 rs566232507 0.4039 None 1000 genomes 1.99681E-04
23425 81 S/C 168 rs566232507 0.4039 None gnomAD-4.0.0 3.84388E-06
23425 81 S/I 168 rs980974415 0.4039 None gnomAD-3.1.2 6.58E-06
23425 81 S/I 168 rs980974415 0.4039 None gnomAD-4.0.0 6.57523E-06
23425 81 S/N 168 None 0.4039 None gnomAD-4.0.0 1.59167E-06
23425 81 S/T 168 rs980974415 0.4039 None gnomAD-4.0.0 1.11417E-05
23426 82 G/A 169 None 0.1942 None gnomAD-4.0.0 1.59168E-06
23426 82 G/V 169 None 0.1942 None gnomAD-4.0.0 1.59168E-06
23427 83 F/S 171 None 0.4823 None gnomAD-4.0.0 1.5917E-06
23427 83 F/Y 171 rs779382645 0.4823 None gnomAD-2.1.1 4.02E-06
23428 84 V/L 172 rs794729486 0.1346 None gnomAD-2.1.1 3.19E-05
23428 84 V/L 172 rs794729486 0.1346 None gnomAD-3.1.2 6.57E-06
23428 84 V/L 172 rs794729486 0.1346 None gnomAD-4.0.0 3.04504E-06
23429 85 N/I 173 None 0.3773 None gnomAD-4.0.0 1.20032E-06
23429 85 N/Y 173 None 0.3773 None gnomAD-4.0.0 2.73717E-06
23430 86 V/F 174 rs549709481 0.1073 None gnomAD-2.1.1 4.02E-06
23430 86 V/F 174 rs549709481 0.1073 None gnomAD-4.0.0 2.73721E-06
23430 86 V/I 174 rs549709481 0.1073 None gnomAD-2.1.1 3.93E-05
23430 86 V/I 174 rs549709481 0.1073 None gnomAD-3.1.2 5.92E-05
23430 86 V/I 174 rs549709481 0.1073 None 1000 genomes 1.99681E-04
23430 86 V/I 174 rs549709481 0.1073 None gnomAD-4.0.0 4.71014E-05
23432 88 V/G 177 None 0.1566 None gnomAD-4.0.0 1.20032E-06