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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
25006 1 P/R 1 rs776196707 0.8300 None gnomAD-2.1.1 1.61E-05
25006 1 P/R 1 rs776196707 0.8300 None gnomAD-3.1.2 2.63E-05
25006 1 P/R 1 rs776196707 0.8300 None gnomAD-4.0.0 1.15357E-05
25006 1 P/S 1 rs1264279589 0.8300 None gnomAD-2.1.1 3.19E-05
25006 1 P/S 1 rs1264279589 0.8300 None gnomAD-3.1.2 6.58E-06
25006 1 P/S 1 rs1264279589 0.8300 None gnomAD-4.0.0 3.09938E-06
25007 2 C/S 2 None 0.2387 None gnomAD-4.0.0 6.84347E-07
25007 2 C/Y 2 rs1419626284 0.2387 None gnomAD-2.1.1 8.06E-06
25007 2 C/Y 2 rs1419626284 0.2387 None gnomAD-4.0.0 2.05304E-06
25009 4 P/L 4 rs1474848898 0.3620 None gnomAD-2.1.1 4.03E-06
25009 4 P/L 4 rs1474848898 0.3620 None gnomAD-4.0.0 3.18404E-06
25010 5 P/A 5 rs1239890589 0.1471 None gnomAD-2.1.1 4.03E-06
25010 5 P/A 5 rs1239890589 0.1471 None gnomAD-4.0.0 1.59197E-06
25010 5 P/L 5 rs370712714 0.1471 None gnomAD-2.1.1 4.03E-05
25010 5 P/L 5 rs370712714 0.1471 None gnomAD-3.1.2 1.32E-05
25010 5 P/L 5 rs370712714 0.1471 None 1000 genomes 1.99681E-04
25010 5 P/L 5 rs370712714 0.1471 None gnomAD-4.0.0 1.61154E-05
25010 5 P/R 5 rs370712714 0.1471 None gnomAD-4.0.0 4.10608E-06
25010 5 P/S 5 rs1239890589 0.1471 None gnomAD-2.1.1 4.03E-06
25010 5 P/S 5 rs1239890589 0.1471 None gnomAD-4.0.0 1.59197E-06
25011 6 G/A 6 None 0.2467 None gnomAD-4.0.0 1.59192E-06
25011 6 G/E 6 rs1267255162 0.2467 None gnomAD-2.1.1 4.03E-06
25011 6 G/E 6 rs1267255162 0.2467 None gnomAD-4.0.0 3.18384E-06
25011 6 G/R 6 rs1448093257 0.2467 None gnomAD-2.1.1 4.03E-06
25011 6 G/R 6 rs1448093257 0.2467 None gnomAD-3.1.2 6.58E-06
25011 6 G/R 6 rs1448093257 0.2467 None gnomAD-4.0.0 6.57505E-06
25012 7 R/Q 7 rs866517435 0.4764 None gnomAD-2.1.1 4.03E-06
25012 7 R/Q 7 rs866517435 0.4764 None gnomAD-3.1.2 1.32E-05
25012 7 R/Q 7 rs866517435 0.4764 None gnomAD-4.0.0 2.04558E-05
25012 7 R/W 7 rs368914555 0.4764 None gnomAD-2.1.1 7.90421E-04
25012 7 R/W 7 rs368914555 0.4764 None gnomAD-3.1.2 2.50046E-04
25012 7 R/W 7 rs368914555 0.4764 None 1000 genomes 1.99681E-03
25012 7 R/W 7 rs368914555 0.4764 None gnomAD-4.0.0 4.09716E-04
25013 8 P/S 9 rs744428 0.1395 None gnomAD-2.1.1 4.03E-06
25013 8 P/S 9 rs744428 0.1395 None gnomAD-4.0.0 6.84362E-07
25013 8 P/T 9 None 0.1395 None gnomAD-4.0.0 6.84362E-07
25015 10 A/T 12 rs1218287371 0.3669 None gnomAD-2.1.1 4.03E-06
25015 10 A/T 12 rs1218287371 0.3669 None gnomAD-4.0.0 2.05321E-06
25015 10 A/V 12 rs397517699 0.3669 None gnomAD-2.1.1 4.03E-06
25015 10 A/V 12 rs397517699 0.3669 None gnomAD-4.0.0 4.77701E-06
25017 12 I/T 14 rs771941844 0.6297 None gnomAD-2.1.1 4.03E-06
25017 12 I/T 14 rs771941844 0.6297 None gnomAD-4.0.0 4.79114E-06
25018 13 V/A 15 rs745832906 0.3700 None gnomAD-2.1.1 1.07E-05
25018 13 V/A 15 rs745832906 0.3700 None gnomAD-3.1.2 6.58E-06
25018 13 V/A 15 rs745832906 0.3700 None gnomAD-4.0.0 2.85187E-05
25018 13 V/I 15 None 0.3700 None gnomAD-4.0.0 1.20032E-06
25019 14 T/K 16 None 0.3205 None gnomAD-4.0.0 1.36908E-06
25019 14 T/R 16 None 0.3205 None gnomAD-4.0.0 4.10723E-06
25020 15 R/K 17 None 0.5060 None gnomAD-4.0.0 1.59324E-06
25022 17 S/Y 19 rs374537008 0.1786 None gnomAD-2.1.1 4.03E-06
25022 17 S/Y 19 rs374537008 0.1786 None gnomAD-4.0.0 1.20033E-06
25024 19 T/S 21 rs1559397320 0.2424 None gnomAD-4.0.0 1.59392E-06
25025 20 L/P 22 rs3731743 0.1136 None gnomAD-3.1.2 6.57E-06
25025 20 L/P 22 rs3731743 0.1136 None gnomAD-4.0.0 6.8216E-06
25026 21 Q/P 23 None 0.5446 None gnomAD-4.0.0 1.20032E-06
25028 23 K/R 25 rs1708004980 0.8631 None gnomAD-4.0.0 4.10883E-06
25029 24 K/E 26 None 0.6638 None gnomAD-4.0.0 1.59439E-06
25030 25 P/L 27 None 0.1993 None gnomAD-4.0.0 6.84819E-07
25031 26 T/I 28 rs756363402 0.8427 None gnomAD-4.0.0 3.60097E-06
25032 27 Y/C 29 None 0.4310 None gnomAD-4.0.0 2.73904E-06
25032 27 Y/S 29 None 0.4310 None gnomAD-4.0.0 6.84761E-07
25033 28 D/E 30 None 0.2418 None gnomAD-4.0.0 1.36964E-06
25034 29 G/S 31 rs781442397 0.2209 None gnomAD-2.1.1 1.21E-05
25034 29 G/S 31 rs781442397 0.2209 None gnomAD-4.0.0 3.42487E-06
25034 29 G/V 31 rs755501933 0.2209 None gnomAD-2.1.1 4.03E-06
25034 29 G/V 31 rs755501933 0.2209 None gnomAD-4.0.0 1.59432E-06
25035 30 G/E 32 rs727503560 0.5316 None gnomAD-2.1.1 4.03E-06
25035 30 G/E 32 rs727503560 0.5316 None gnomAD-4.0.0 9.58655E-06
25035 30 G/R 32 None 0.5316 None gnomAD-4.0.0 4.80129E-06
25036 31 S/N 33 None 0.2269 None gnomAD-4.0.0 6.84736E-07
25036 31 S/R 33 None 0.2269 None gnomAD-4.0.0 1.3694E-06
25037 32 K/M 34 None 0.8777 None gnomAD-4.0.0 6.84696E-07
25037 32 K/T 34 None 0.8777 None gnomAD-4.0.0 1.36939E-06
25038 33 I/S 35 None 0.2109 None gnomAD-4.0.0 1.20032E-06
25038 33 I/V 35 None 0.2109 None gnomAD-4.0.0 1.36931E-06
25039 34 T/A 36 rs1272032995 0.4143 None gnomAD-3.1.2 6.58E-06
25039 34 T/A 36 rs1272032995 0.4143 None gnomAD-4.0.0 2.0301E-06
25040 35 G/S 37 rs766830553 0.1333 None gnomAD-2.1.1 4.03E-06
25040 35 G/S 37 rs766830553 0.1333 None gnomAD-3.1.2 6.58E-06
25040 35 G/S 37 rs766830553 0.1333 None gnomAD-4.0.0 8.68135E-06
25041 36 Y/C 38 rs375688406 0.1331 None gnomAD-3.1.2 1.97E-05
25041 36 Y/C 38 rs375688406 0.1331 None gnomAD-4.0.0 4.06038E-06
25042 37 I/T 39 rs775091036 0.3159 None gnomAD-2.1.1 8.06E-06
25042 37 I/T 39 rs775091036 0.3159 None gnomAD-3.1.2 2.63E-05
25042 37 I/T 39 rs775091036 0.3159 None gnomAD-4.0.0 5.58005E-06
25042 37 I/V 39 None 0.3159 None gnomAD-4.0.0 2.40064E-06
25043 38 V/A 40 None 0.0972 None gnomAD-4.0.0 7.96176E-06
25043 38 V/F 40 rs559907766 0.0972 None gnomAD-2.1.1 1.00722E-04
25043 38 V/F 40 rs559907766 0.0972 None gnomAD-3.1.2 3.29E-05
25043 38 V/F 40 rs559907766 0.0972 None 1000 genomes 5.99042E-04
25043 38 V/F 40 rs559907766 0.0972 None gnomAD-4.0.0 6.32342E-05
25043 38 V/I 40 None 0.0972 None gnomAD-4.0.0 4.79148E-06
25043 38 V/L 40 rs559907766 0.0972 None gnomAD-2.1.1 4.03E-06
25043 38 V/L 40 rs559907766 0.0972 None gnomAD-4.0.0 1.36899E-06
25044 39 E/D 41 None 0.1811 None gnomAD-4.0.0 1.36879E-06
25045 40 K/E 42 rs1275374951 0.3266 None gnomAD-2.1.1 8.05E-06
25045 40 K/E 42 rs1275374951 0.3266 None gnomAD-4.0.0 4.1063E-06
25046 41 K/E 43 None 0.2091 None gnomAD-4.0.0 2.40065E-06
25046 41 K/R 43 None 0.2091 None gnomAD-4.0.0 1.36871E-06
25046 41 K/T 43 rs759445513 0.2091 None gnomAD-2.1.1 4.03E-06
25048 43 L/S 50 rs774327169 0.2873 None gnomAD-2.1.1 8.05E-06
25048 43 L/S 50 rs774327169 0.2873 None gnomAD-4.0.0 6.15904E-06
25049 44 P/S 54 rs1268559382 0.7165 None gnomAD-3.1.2 6.58E-06
25049 44 P/S 54 rs1268559382 0.7165 None gnomAD-4.0.0 6.57938E-06
25050 45 E/K 60 rs770754919 0.9856 None gnomAD-2.1.1 8.05E-06
25050 45 E/K 60 rs770754919 0.9856 None gnomAD-4.0.0 3.18384E-06
25052 47 R/C 64 rs1303893206 0.7436 None gnomAD-2.1.1 1.07E-05
25052 47 R/C 64 rs1303893206 0.7436 None gnomAD-4.0.0 8.21181E-06
25052 47 R/H 64 rs542720402 0.7436 None gnomAD-2.1.1 1.61E-05
25052 47 R/H 64 rs542720402 0.7436 None gnomAD-3.1.2 1.97E-05
25052 47 R/H 64 rs542720402 0.7436 None 1000 genomes 1.99681E-04
25052 47 R/H 64 rs542720402 0.7436 None gnomAD-4.0.0 6.19769E-06
25053 48 W/R 65 rs1194834510 0.2781 None gnomAD-3.1.2 6.58E-06
25053 48 W/R 65 rs1194834510 0.2781 None gnomAD-4.0.0 2.03022E-06
25053 48 W/S 65 rs748412838 0.2781 None gnomAD-2.1.1 1.43E-05
25053 48 W/S 65 rs748412838 0.2781 None gnomAD-3.1.2 1.32E-05
25053 48 W/S 65 rs748412838 0.2781 None gnomAD-4.0.0 2.47927E-05
25054 49 M/I 66 rs1410088991 0.3986 None gnomAD-2.1.1 4.02E-06
25059 54 T/I 72 None 0.7536 None gnomAD-4.0.0 2.73721E-06
25059 54 T/K 72 rs1374355756 0.7536 None gnomAD-2.1.1 4.02E-06
25059 54 T/K 72 rs1374355756 0.7536 None gnomAD-3.1.2 1.32E-05
25059 54 T/K 72 rs1374355756 0.7536 None gnomAD-4.0.0 5.57834E-06
25061 56 I/T 77 rs1455981724 0.0971 None gnomAD-2.1.1 4.02E-06
25061 56 I/T 77 rs1455981724 0.0971 None gnomAD-4.0.0 1.59169E-06
25062 57 I/S 83 None 0.7496 None gnomAD-4.0.0 6.84288E-07
25062 57 I/T 83 rs1010492126 0.7496 None gnomAD-2.1.1 4.02E-06
25062 57 I/T 83 rs1010492126 0.7496 None gnomAD-4.0.0 2.05286E-06
25063 58 D/H 88 rs1707970781 0.5459 None gnomAD-4.0.0 1.59169E-06
25064 59 T/A 89 rs893428451 0.2287 None gnomAD-2.1.1 8.05E-06
25064 59 T/A 89 rs893428451 0.2287 None gnomAD-3.1.2 1.32E-05
25064 59 T/A 89 rs893428451 0.2287 None gnomAD-4.0.0 2.85118E-05
25064 59 T/P 89 None 0.2287 None gnomAD-4.0.0 6.84284E-07
25065 60 H/N 90 rs1318351282 0.5820 None gnomAD-2.1.1 3.19E-05
25065 60 H/P 90 rs182161195 0.5820 None gnomAD-2.1.1 3.19E-05
25065 60 H/R 90 rs182161195 0.5820 None gnomAD-2.1.1 2.64306E-04
25065 60 H/R 90 rs182161195 0.5820 None gnomAD-3.1.2 1.18371E-04
25065 60 H/R 90 rs182161195 0.5820 None 1000 genomes 5.99042E-04
25065 60 H/R 90 rs182161195 0.5820 None gnomAD-4.0.0 2.07622E-04
25068 63 V/I 93 None 0.1443 None gnomAD-4.0.0 1.59169E-06
25072 67 V/A 98 rs1707961422 0.4074 None gnomAD-4.0.0 2.73714E-06
25074 69 D/H 100 rs780776048 0.6760 None gnomAD-2.1.1 4.02E-06
25074 69 D/H 100 rs780776048 0.6760 None gnomAD-4.0.0 3.18337E-06
25074 69 D/N 100 rs780776048 0.6760 None gnomAD-2.1.1 4.02E-06
25074 69 D/N 100 rs780776048 0.6760 None gnomAD-4.0.0 1.59168E-06
25074 69 D/Y 100 None 0.6760 None gnomAD-4.0.0 1.59168E-06
25076 71 R/S 103 rs758951524 0.4831 None gnomAD-2.1.1 8.05E-06
25076 71 R/S 103 rs758951524 0.4831 None gnomAD-4.0.0 3.18342E-06
25077 72 Y/C 104 rs1001172074 0.1219 None gnomAD-3.1.2 6.57E-06
25077 72 Y/C 104 rs1001172074 0.1219 None gnomAD-4.0.0 1.05365E-05
25077 72 Y/H 104 None 0.1219 None gnomAD-4.0.0 1.59174E-06
25078 73 E/D 105 None 0.1916 None gnomAD-4.0.0 1.59173E-06
25078 73 E/G 105 rs1223037515 0.1916 None gnomAD-2.1.1 4.02E-06
25078 73 E/G 105 rs1223037515 0.1916 None gnomAD-4.0.0 4.79008E-06
25078 73 E/K 105 None 0.1916 None gnomAD-4.0.0 6.84298E-07
25078 73 E/Q 105 None 0.1916 None gnomAD-4.0.0 2.73719E-06
25080 75 R/P 107 rs543598247 0.1772 None gnomAD-2.1.1 4.02E-06
25080 75 R/P 107 rs543598247 0.1772 None gnomAD-4.0.0 1.36862E-06
25080 75 R/Q 107 rs543598247 0.1772 None gnomAD-2.1.1 3.22E-05
25080 75 R/Q 107 rs543598247 0.1772 None gnomAD-3.1.2 6.58E-06
25080 75 R/Q 107 rs543598247 0.1772 None 1000 genomes 1.99681E-04
25080 75 R/Q 107 rs543598247 0.1772 None gnomAD-4.0.0 1.67343E-05
25080 75 R/W 107 rs1370877041 0.1772 None gnomAD-2.1.1 8.05E-06
25080 75 R/W 107 rs1370877041 0.1772 None gnomAD-4.0.0 4.79013E-06
25081 76 V/I 108 None 0.0854 None gnomAD-4.0.0 3.18346E-06
25084 79 R/G 111 None 0.5097 None gnomAD-4.0.0 6.84311E-07
25084 79 R/Q 111 rs794729496 0.5097 None gnomAD-2.1.1 3.93E-05
25084 79 R/Q 111 rs794729496 0.5097 None gnomAD-3.1.2 6.57E-06
25084 79 R/Q 111 rs794729496 0.5097 None gnomAD-4.0.0 1.79743E-05
25085 80 N/Y 112 None 0.1104 None gnomAD-4.0.0 1.20032E-06
25086 81 A/V 113 rs1707949011 0.3824 None gnomAD-4.0.0 4.80129E-06
25087 82 A/P 114 rs759110420 0.4702 None gnomAD-2.1.1 4.02E-06
25087 82 A/P 114 rs759110420 0.4702 None gnomAD-4.0.0 6.84306E-07
25087 82 A/T 114 rs759110420 0.4702 None gnomAD-2.1.1 5.72E-05
25087 82 A/T 114 rs759110420 0.4702 None gnomAD-3.1.2 8.55E-05
25087 82 A/T 114 rs759110420 0.4702 None gnomAD-4.0.0 5.95011E-05
25088 83 G/E 115 rs1158992381 0.3194 None gnomAD-2.1.1 4.02E-06
25088 83 G/E 115 rs1158992381 0.3194 None gnomAD-4.0.0 6.84311E-07
25088 83 G/R 115 rs773853569 0.3194 None gnomAD-2.1.1 2.14E-05
25088 83 G/R 115 rs773853569 0.3194 None gnomAD-3.1.2 1.31E-05
25088 83 G/R 115 rs773853569 0.3194 None gnomAD-4.0.0 8.05733E-06
25089 84 V/M 116 rs1004625054 0.4270 None gnomAD-3.1.2 6.57E-06
25089 84 V/M 116 rs1004625054 0.4270 None gnomAD-4.0.0 2.03001E-06
25090 85 F/I 117 rs762970043 0.5762 None gnomAD-2.1.1 4.02E-06
25090 85 F/I 117 rs762970043 0.5762 None gnomAD-4.0.0 4.77535E-06
25091 86 S/G 118 rs886609420 0.1353 None gnomAD-2.1.1 4.02E-06
25091 86 S/G 118 rs886609420 0.1353 None gnomAD-3.1.2 1.32E-05
25091 86 S/G 118 rs886609420 0.1353 None gnomAD-4.0.0 3.71881E-06
25092 87 E/K 119 rs397517700 0.6378 None gnomAD-2.1.1 1.79E-05
25092 87 E/K 119 rs397517700 0.6378 None gnomAD-3.1.2 2.63E-05
25092 87 E/K 119 rs397517700 0.6378 None 1000 genomes 1.99681E-04
25092 87 E/K 119 rs397517700 0.6378 None gnomAD-4.0.0 6.81722E-06
25093 88 P/A 120 rs748359400 0.3781 None gnomAD-4.0.0 6.84296E-07
25093 88 P/S 120 rs748359400 0.3781 None gnomAD-2.1.1 4.02E-06
25093 88 P/S 120 rs748359400 0.3781 None gnomAD-4.0.0 1.30016E-05
25095 90 E/G 122 None 0.7378 None gnomAD-4.0.0 1.20032E-06
25095 90 E/K 122 None 0.7378 None gnomAD-4.0.0 1.59174E-06
25096 91 S/C 123 None 0.2606 None gnomAD-4.0.0 1.59171E-06
25097 92 T/I 124 rs777052871 0.2252 None gnomAD-2.1.1 4.02E-06
25097 92 T/I 124 rs777052871 0.2252 None gnomAD-4.0.0 1.59175E-06
25097 92 T/K 124 None 0.2252 None gnomAD-4.0.0 1.59175E-06
25098 93 G/R 125 rs747022529 0.2696 None gnomAD-2.1.1 2.01E-05
25098 93 G/R 125 rs747022529 0.2696 None gnomAD-4.0.0 9.55052E-06
25099 94 A/P 126 None 0.3660 None gnomAD-4.0.0 6.84299E-07
25099 94 A/T 126 None 0.3660 None gnomAD-4.0.0 6.84299E-07
25099 94 A/V 126 None 0.3660 None gnomAD-4.0.0 6.84303E-07
25100 95 I/V 127 rs1314990516 0.2328 None gnomAD-2.1.1 4.02E-06
25100 95 I/V 127 rs1314990516 0.2328 None gnomAD-4.0.0 2.05288E-06
25101 96 T/I 129 rs1286105524 0.3595 None gnomAD-2.1.1 4.02E-06
25101 96 T/I 129 rs1286105524 0.3595 None gnomAD-4.0.0 1.59177E-06
25102 97 A/T 130 None 0.1030 None gnomAD-4.0.0 1.20032E-06
25103 98 R/K 131 rs758786845 0.6065 None gnomAD-2.1.1 4.02E-06
25103 98 R/K 131 rs758786845 0.6065 None gnomAD-3.1.2 6.58E-06
25103 98 R/K 131 rs758786845 0.6065 None gnomAD-4.0.0 3.8445E-06
25103 98 R/T 131 rs758786845 0.6065 None gnomAD-2.1.1 8.05E-06
25103 98 R/T 131 rs758786845 0.6065 None gnomAD-3.1.2 6.58E-06
25103 98 R/T 131 rs758786845 0.6065 None gnomAD-4.0.0 6.4075E-06
25104 99 D/V 132 rs534319705 0.8239 None gnomAD-3.1.2 6.58E-06
25104 99 D/V 132 rs534319705 0.8239 None 1000 genomes 1.99681E-04
25104 99 D/V 132 rs534319705 0.8239 None gnomAD-4.0.0 1.53758E-05