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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
24323 1 K/E 1 rs143241129 0.5933 None gnomAD-2.1.1 2.02E-05
24323 1 K/E 1 rs143241129 0.5933 None gnomAD-3.1.2 3.29E-05
24323 1 K/E 1 rs143241129 0.5933 None 1000 genomes 5.99042E-04
24323 1 K/E 1 rs143241129 0.5933 None gnomAD-4.0.0 5.14642E-05
24323 1 K/N 1 None 0.5933 None gnomAD-4.0.0 1.59363E-06
24325 3 G/R 3 rs755886285 0.2290 None gnomAD-2.1.1 2.15E-05
24325 3 G/R 3 rs755886285 0.2290 None gnomAD-3.1.2 2.63E-05
24325 3 G/R 3 rs755886285 0.2290 None gnomAD-4.0.0 1.02634E-05
24326 4 P/L 4 None 0.4107 None gnomAD-4.0.0 1.59308E-06
24326 4 P/S 4 None 0.4107 None gnomAD-4.0.0 1.20033E-06
24327 5 P/Q 5 rs748006828 0.1341 None gnomAD-2.1.1 4.03E-06
24327 5 P/Q 5 rs748006828 0.1341 None gnomAD-4.0.0 1.59301E-06
24330 8 P/S 9 rs878888593 0.1764 None gnomAD-4.0.0 1.59259E-06
24331 9 R/C 11 rs376591763 0.2935 None gnomAD-2.1.1 2.01E-05
24331 9 R/C 11 rs376591763 0.2935 None gnomAD-3.1.2 1.32E-05
24331 9 R/C 11 rs376591763 0.2935 None gnomAD-4.0.0 3.96748E-05
24331 9 R/H 11 rs755174224 0.2935 None gnomAD-2.1.1 1.32321E-04
24331 9 R/H 11 rs755174224 0.2935 None gnomAD-3.1.2 5.92E-05
24331 9 R/H 11 rs755174224 0.2935 None gnomAD-4.0.0 2.47967E-05
24332 10 V/F 12 rs876658081 0.3310 None gnomAD-3.1.2 6.58E-06
24332 10 V/F 12 rs876658081 0.3310 None gnomAD-4.0.0 4.95917E-06
24332 10 V/I 12 rs876658081 0.3310 None gnomAD-4.0.0 6.84416E-07
24334 12 D/Y 14 None 0.6751 None gnomAD-4.0.0 2.40064E-06
24335 13 T/I 15 rs766442878 0.3433 None gnomAD-2.1.1 4.03E-06
24335 13 T/I 15 rs766442878 0.3433 None gnomAD-4.0.0 3.18448E-06
24336 14 S/G 16 rs1708845261 0.2606 None gnomAD-3.1.2 6.58E-06
24336 14 S/G 16 rs1708845261 0.2606 None gnomAD-4.0.0 6.57601E-06
24336 14 S/N 16 None 0.2606 None gnomAD-4.0.0 1.59227E-06
24337 15 R/T 17 None 0.5743 None gnomAD-4.0.0 2.40064E-06
24338 16 S/P 18 None 0.4138 None gnomAD-4.0.0 2.7376E-06
24340 18 I/T 20 None 0.1241 None gnomAD-4.0.0 1.59224E-06
24341 19 S/A 21 rs1397935154 0.2097 None gnomAD-2.1.1 3.19E-05
24341 19 S/A 21 rs1397935154 0.2097 None gnomAD-3.1.2 6.58E-06
24341 19 S/A 21 rs1397935154 0.2097 None gnomAD-4.0.0 2.56383E-06
24341 19 S/L 21 rs568799517 0.2097 None gnomAD-4.0.0 1.3688E-06
24342 20 I/M 22 None 0.1028 None gnomAD-4.0.0 2.05324E-06
24342 20 I/T 22 None 0.1028 None gnomAD-4.0.0 3.18465E-06
24342 20 I/V 22 rs1051443527 0.1028 None gnomAD-2.1.1 8.05E-06
24342 20 I/V 22 rs1051443527 0.1028 None gnomAD-4.0.0 4.10641E-06
24343 21 A/G 23 None 0.1211 None gnomAD-4.0.0 1.20032E-06
24343 21 A/S 23 rs72646895 0.1211 None gnomAD-2.1.1 4.03E-06
24343 21 A/S 23 rs72646895 0.1211 None gnomAD-4.0.0 1.36884E-06
24343 21 A/T 23 rs72646895 0.1211 None gnomAD-2.1.1 3.57E-05
24343 21 A/T 23 rs72646895 0.1211 None gnomAD-3.1.2 1.71077E-04
24343 21 A/T 23 rs72646895 0.1211 None gnomAD-4.0.0 3.71961E-05
24344 22 W/C 24 None 0.1012 None gnomAD-4.0.0 1.59238E-06
24344 22 W/L 24 None 0.1012 None gnomAD-4.0.0 1.59234E-06
24347 25 P/L 27 rs762412998 0.1494 None gnomAD-2.1.1 3.22E-05
24347 25 P/L 27 rs762412998 0.1494 None gnomAD-4.0.0 9.55454E-06
24347 25 P/S 27 None 0.1494 None gnomAD-4.0.0 3.60097E-06
24348 26 I/L 28 rs1708838358 1.0893 None gnomAD-4.0.0 1.36885E-06
24348 26 I/S 28 rs1708837698 1.0893 None gnomAD-4.0.0 1.59241E-06
24348 26 I/V 28 None 1.0893 None gnomAD-4.0.0 1.36885E-06
24349 27 Y/C 29 None 0.5367 None gnomAD-4.0.0 1.36884E-06
24349 27 Y/N 29 rs1559421745 0.5367 None gnomAD-2.1.1 4.03E-06
24349 27 Y/N 29 rs1559421745 0.5367 None gnomAD-4.0.0 4.80129E-06
24350 28 D/H 30 rs751015119 0.3195 None gnomAD-2.1.1 4.03E-06
24350 28 D/H 30 rs751015119 0.3195 None gnomAD-3.1.2 6.58E-06
24350 28 D/H 30 rs751015119 0.3195 None gnomAD-4.0.0 4.9592E-06
24350 28 D/N 30 None 0.3195 None gnomAD-4.0.0 8.21309E-06
24351 29 G/S 31 rs1420684207 0.2044 None gnomAD-3.1.2 6.58E-06
24351 29 G/S 31 rs1420684207 0.2044 None gnomAD-4.0.0 3.84607E-06
24352 30 G/A 32 None 0.6108 None gnomAD-4.0.0 1.20032E-06
24352 30 G/R 32 rs776994068 0.6108 None gnomAD-2.1.1 8.05E-06
24352 30 G/R 32 rs776994068 0.6108 None gnomAD-4.0.0 3.1849E-06
24352 30 G/S 32 None 0.6108 None gnomAD-4.0.0 1.59245E-06
24352 30 G/V 32 rs1708827755 0.6108 None gnomAD-4.0.0 1.20032E-06
24356 34 T/A 36 rs1489472949 0.4461 None gnomAD-2.1.1 4.03E-06
24356 34 T/A 36 rs1489472949 0.4461 None gnomAD-4.0.0 1.59247E-06
24356 34 T/I 36 None 0.4461 None gnomAD-4.0.0 1.59248E-06
24357 35 G/V 37 None 0.1186 None gnomAD-4.0.0 1.20032E-06
24358 36 Y/C 38 rs368124487 0.1212 None gnomAD-2.1.1 4.03E-06
24358 36 Y/C 38 rs368124487 0.1212 None gnomAD-4.0.0 1.36888E-06
24358 36 Y/F 38 rs368124487 0.1212 None gnomAD-2.1.1 5.01E-05
24358 36 Y/F 38 rs368124487 0.1212 None gnomAD-3.1.2 7.23E-05
24358 36 Y/F 38 rs368124487 0.1212 None gnomAD-4.0.0 1.00427E-04
24359 37 M/T 39 rs1368475411 0.2177 None gnomAD-3.1.2 6.58E-06
24359 37 M/T 39 rs1368475411 0.2177 None gnomAD-4.0.0 2.56396E-06
24359 37 M/V 39 rs1469212493 0.2177 None gnomAD-2.1.1 3.19E-05
24359 37 M/V 39 rs1469212493 0.2177 None gnomAD-3.1.2 6.58E-06
24359 37 M/V 39 rs1469212493 0.2177 None gnomAD-4.0.0 6.5754E-06
24360 38 V/F 40 None 0.0878 None gnomAD-4.0.0 4.79115E-06
24360 38 V/L 40 None 0.0878 None gnomAD-4.0.0 6.84451E-07
24361 39 E/K 41 None 0.1012 None gnomAD-4.0.0 6.84462E-07
24361 39 E/Q 41 None 0.1012 None gnomAD-4.0.0 6.84462E-07
24362 40 I/T 42 rs1708819361 0.2051 None gnomAD-3.1.2 6.58E-06
24362 40 I/T 42 rs1708819361 0.2051 None gnomAD-4.0.0 3.0452E-06
24365 43 P/S 50 None 0.2436 None gnomAD-4.0.0 2.40064E-06
24366 44 E/K 54 rs1708815210 0.7617 None gnomAD-3.1.2 6.58E-06
24366 44 E/K 54 rs1708815210 0.7617 None gnomAD-4.0.0 6.57523E-06
24366 44 E/V 54 rs1708814132 0.7617 None gnomAD-4.0.0 1.59269E-06
24367 45 E/A 60 None 0.4439 None gnomAD-4.0.0 6.84487E-07
24367 45 E/D 60 rs1357419691 0.4439 None gnomAD-2.1.1 4.03E-06
24367 45 E/D 60 rs1357419691 0.4439 None gnomAD-4.0.0 3.18567E-06
24367 45 E/V 60 None 0.4439 None gnomAD-4.0.0 1.36897E-06
24368 46 D/H 63 None 1.0570 None gnomAD-4.0.0 6.84511E-07
24368 46 D/N 63 None 1.0570 None gnomAD-4.0.0 1.36902E-06
24368 46 D/Y 63 rs886042474 1.0570 None gnomAD-4.0.0 6.84511E-07
24370 48 W/C 65 rs1261582084 0.2753 None gnomAD-3.1.2 1.32E-05
24370 48 W/C 65 rs1261582084 0.2753 None gnomAD-4.0.0 1.23999E-05
24370 48 W/R 65 rs879236420 0.2753 None gnomAD-2.1.1 4.03E-06
24370 48 W/R 65 rs879236420 0.2753 None gnomAD-3.1.2 6.58E-06
24370 48 W/R 65 rs879236420 0.2753 None gnomAD-4.0.0 6.57531E-06
24371 49 Q/H 66 None 0.6136 None gnomAD-4.0.0 2.05351E-06
24371 49 Q/K 66 rs1319568037 0.6136 None gnomAD-3.1.2 1.32E-05
24371 49 Q/K 66 rs1319568037 0.6136 None gnomAD-4.0.0 1.23995E-05
24375 53 P/L 70 rs376041680 0.5122 None gnomAD-2.1.1 8.07E-06
24375 53 P/L 70 rs376041680 0.5122 None gnomAD-4.0.0 3.62785E-05
24375 53 P/T 70 None 0.5122 None gnomAD-4.0.0 1.59281E-06
24377 55 A/T 74 None 0.6950 None gnomAD-4.0.0 4.80129E-06
24378 56 G/A 75 None 0.2568 None gnomAD-4.0.0 1.20032E-06
24379 57 L/R 77 None 0.2252 None gnomAD-4.0.0 1.59273E-06
24380 58 K/E 83 None 0.9584 None gnomAD-4.0.0 2.73793E-06
24381 59 A/S 88 rs762504227 0.3443 None gnomAD-2.1.1 4.04E-06
24381 59 A/S 88 rs762504227 0.3443 None gnomAD-4.0.0 1.59288E-06
24382 60 T/N 89 None 0.2878 None gnomAD-4.0.0 1.59273E-06
24383 61 S/L 90 rs368415251 0.3661 None gnomAD-2.1.1 1.79E-05
24383 61 S/L 90 rs368415251 0.3661 None gnomAD-3.1.2 3.95E-05
24383 61 S/L 90 rs368415251 0.3661 None gnomAD-4.0.0 7.4395E-06
24384 62 Y/C 91 rs1298487582 0.2925 None gnomAD-2.1.1 8.08E-06
24384 62 Y/C 91 rs1298487582 0.2925 None gnomAD-3.1.2 6.57E-06
24384 62 Y/C 91 rs1298487582 0.2925 None gnomAD-4.0.0 6.81924E-06
24385 63 T/A 92 rs1403922674 0.3756 None gnomAD-2.1.1 1.08E-05
24385 63 T/A 92 rs1403922674 0.3756 None gnomAD-3.1.2 1.97E-05
24385 63 T/A 92 rs1403922674 0.3756 None gnomAD-4.0.0 5.57937E-06
24386 64 I/V 93 rs780995546 0.1556 None gnomAD-2.1.1 2.02E-05
24386 64 I/V 93 rs780995546 0.1556 None gnomAD-3.1.2 2.63E-05
24386 64 I/V 93 rs780995546 0.1556 None gnomAD-4.0.0 1.41029E-05
24387 65 T/I 94 None 0.6664 None gnomAD-4.0.0 1.59265E-06
24388 66 G/S 96 rs768369089 0.5711 None gnomAD-2.1.1 4.04E-06
24388 66 G/S 96 rs768369089 0.5711 None gnomAD-3.1.2 6.58E-06
24388 66 G/S 96 rs768369089 0.5711 None gnomAD-4.0.0 2.56421E-06
24390 68 T/A 98 rs182491843 0.5353 None gnomAD-2.1.1 6.23866E-04
24390 68 T/A 98 rs182491843 0.5353 None gnomAD-3.1.2 1.86709E-03
24390 68 T/A 98 rs182491843 0.5353 None 1000 genomes 1.19808E-03
24390 68 T/A 98 rs182491843 0.5353 None gnomAD-4.0.0 3.60152E-04
24390 68 T/K 98 rs1060500583 0.5353 None gnomAD-4.0.0 1.20032E-06
24391 69 E/D 99 None 0.4732 None gnomAD-4.0.0 6.84461E-07
24391 69 E/G 99 None 0.4732 None gnomAD-4.0.0 1.36891E-06
24391 69 E/K 99 rs1479035090 0.4732 None gnomAD-2.1.1 4.04E-06
24391 69 E/K 99 rs1479035090 0.4732 None gnomAD-4.0.0 6.84461E-07
24391 69 E/Q 99 None 0.4732 None gnomAD-4.0.0 2.05338E-06
24392 70 N/S 100 None 0.5309 None gnomAD-4.0.0 2.05335E-06
24394 72 E/D 103 rs750460710 0.3479 None gnomAD-2.1.1 4.04E-06
24394 72 E/D 103 rs750460710 0.3479 None gnomAD-3.1.2 6.57E-06
24394 72 E/D 103 rs750460710 0.3479 None gnomAD-4.0.0 7.43885E-06
24395 73 Y/H 104 rs1489927926 0.1643 None gnomAD-2.1.1 4.04E-06
24395 73 Y/H 104 rs1489927926 0.1643 None gnomAD-4.0.0 1.59254E-06
24397 75 I/M 106 rs1269666445 0.1259 None gnomAD-2.1.1 4.04E-06
24397 75 I/M 106 rs1269666445 0.1259 None gnomAD-4.0.0 1.59249E-06
24398 76 R/C 107 rs779146599 0.1323 None gnomAD-2.1.1 4.04E-06
24398 76 R/C 107 rs779146599 0.1323 None gnomAD-4.0.0 1.30044E-05
24398 76 R/H 107 rs757790881 0.1323 None gnomAD-2.1.1 4.04E-06
24398 76 R/H 107 rs757790881 0.1323 None gnomAD-3.1.2 1.97E-05
24398 76 R/H 107 rs757790881 0.1323 None gnomAD-4.0.0 6.19929E-06
24398 76 R/P 107 None 0.1323 None gnomAD-4.0.0 6.84434E-07
24398 76 R/S 107 None 0.1323 None gnomAD-4.0.0 6.84443E-07
24402 80 M/I 111 rs868393238 0.2017 None gnomAD-4.0.0 9.58169E-06
24402 80 M/T 111 rs903200206 0.2017 None gnomAD-3.1.2 6.58E-06
24402 80 M/T 111 rs903200206 0.2017 None gnomAD-4.0.0 6.57514E-06
24404 82 S/Y 113 None 0.5371 None gnomAD-4.0.0 1.36879E-06
24405 83 E/D 114 rs1027579307 0.5880 None gnomAD-2.1.1 4.04E-06
24405 83 E/D 114 rs1027579307 0.5880 None gnomAD-4.0.0 1.59222E-06
24405 83 E/K 114 rs764485436 0.5880 None gnomAD-2.1.1 3.23E-05
24405 83 E/K 114 rs764485436 0.5880 None gnomAD-4.0.0 1.02659E-05
24407 85 L/F 117 rs760989943 0.5796 None gnomAD-2.1.1 4.03E-06
24407 85 L/F 117 rs760989943 0.5796 None gnomAD-4.0.0 3.1844E-06
24407 85 L/H 117 rs72646896 0.5796 None gnomAD-2.1.1 1.21E-05
24407 85 L/H 117 rs72646896 0.5796 None gnomAD-4.0.0 2.05315E-06
24407 85 L/P 117 rs72646896 0.5796 None gnomAD-4.0.0 1.36877E-06
24407 85 L/V 117 rs760989943 0.5796 None gnomAD-3.1.2 6.58E-06
24407 85 L/V 117 rs760989943 0.5796 None gnomAD-4.0.0 6.57592E-06
24408 86 G/R 118 rs1386903866 0.2167 None gnomAD-4.0.0 1.59221E-06
24409 87 E/Q 119 rs762601217 0.6418 None gnomAD-2.1.1 4.03E-06
24409 87 E/Q 119 rs762601217 0.6418 None gnomAD-4.0.0 1.59221E-06
24410 88 P/L 120 rs368510432 0.3121 None gnomAD-3.1.2 6.57E-06
24410 88 P/L 120 rs368510432 0.3121 None gnomAD-4.0.0 2.56358E-06
24410 88 P/S 120 None 0.3121 None gnomAD-4.0.0 1.5922E-06
24411 89 A/D 121 rs55991022 0.1349 None gnomAD-2.1.1 4.03E-06
24411 89 A/D 121 rs55991022 0.1349 None gnomAD-3.1.2 6.58E-06
24411 89 A/D 121 rs55991022 0.1349 None 1000 genomes 1.99681E-04
24411 89 A/D 121 rs55991022 0.1349 None gnomAD-4.0.0 1.48757E-05
24411 89 A/T 121 rs772653954 0.1349 None gnomAD-2.1.1 4.03E-06
24411 89 A/T 121 rs772653954 0.1349 None gnomAD-4.0.0 2.05313E-06
24413 91 V/F 123 None 0.1678 None gnomAD-4.0.0 1.59214E-06
24414 92 P/R 124 rs769320646 0.6386 None gnomAD-2.1.1 4.03E-06
24414 92 P/R 124 rs769320646 0.6386 None gnomAD-4.0.0 2.05312E-06
24415 93 G/A 125 rs776473891 0.5059 None gnomAD-2.1.1 4.03E-06
24415 93 G/A 125 rs776473891 0.5059 None gnomAD-4.0.0 1.36873E-06
24415 93 G/R 125 rs761774167 0.5059 None gnomAD-2.1.1 4.03E-06
24415 93 G/R 125 rs761774167 0.5059 None gnomAD-4.0.0 1.59215E-06
24416 94 T/I 126 rs768476881 0.3384 None gnomAD-2.1.1 1.79E-05
24416 94 T/I 126 rs768476881 0.3384 None gnomAD-3.1.2 3.29E-05
24416 94 T/I 126 rs768476881 0.3384 None gnomAD-4.0.0 1.05378E-05
24419 97 A/D 130 None 0.0958 None gnomAD-4.0.0 6.8436E-07
24419 97 A/P 130 rs1559419207 0.0958 None gnomAD-2.1.1 3.19E-05
24419 97 A/P 130 rs1559419207 0.0958 None gnomAD-4.0.0 4.10617E-06
24419 97 A/S 130 None 0.0958 None gnomAD-4.0.0 6.84362E-07
24419 97 A/T 130 rs1559419207 0.0958 None gnomAD-4.0.0 2.73745E-06
24419 97 A/V 130 None 0.0958 None gnomAD-4.0.0 6.8436E-07
24420 98 E/K 131 rs1265445775 0.4746 None gnomAD-3.1.2 1.31E-05
24420 98 E/K 131 rs1265445775 0.4746 None gnomAD-4.0.0 7.69014E-06
24421 99 D/E 132 None 0.8857 None gnomAD-4.0.0 1.59203E-06
24421 99 D/N 132 None 0.8857 None gnomAD-4.0.0 2.40064E-06