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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
21266 1 T/A 1 rs1453662624 0.1901 None gnomAD-3.1.2 6.58E-06
21266 1 T/A 1 rs1453662624 0.1901 None gnomAD-4.0.0 2.03051E-06
21266 1 T/I 1 None 0.1901 None gnomAD-4.0.0 2.061E-06
21266 1 T/S 1 None 0.1901 None gnomAD-4.0.0 6.87001E-07
21267 2 P/L 2 rs200365508 0.0904 None gnomAD-2.1.1 1.11E-05
21267 2 P/L 2 rs200365508 0.0904 None gnomAD-3.1.2 5.92E-05
21267 2 P/L 2 rs200365508 0.0904 None gnomAD-4.0.0 8.70561E-06
21268 3 G/E 3 None 0.1615 None gnomAD-4.0.0 1.60413E-06
21268 3 G/R 3 None 0.1615 None gnomAD-4.0.0 6.86558E-07
21268 3 G/V 3 None 0.1615 None gnomAD-4.0.0 1.60413E-06
21270 5 V/A 5 rs770388612 0.1189 None gnomAD-2.1.1 4.16E-06
21270 5 V/A 5 rs770388612 0.1189 None gnomAD-3.1.2 6.58E-06
21270 5 V/A 5 rs770388612 0.1189 None gnomAD-4.0.0 4.34837E-06
21270 5 V/M 5 rs773891427 0.1189 None gnomAD-2.1.1 4.16E-06
21270 5 V/M 5 rs773891427 0.1189 None gnomAD-4.0.0 1.60165E-06
21272 7 D/E 7 None 0.5835 None gnomAD-4.0.0 6.85636E-07
21272 7 D/Y 7 rs376015249 0.5835 None gnomAD-2.1.1 4.14E-06
21274 9 K/E 11 rs886042547 0.3978 None gnomAD-4.0.0 1.20032E-06
21274 9 K/T 11 None 0.3978 None gnomAD-4.0.0 1.59787E-06
21275 10 V/L 12 rs2049255613 0.2799 None gnomAD-4.0.0 1.6062E-06
21277 12 D/N 14 rs2049253649 0.7167 None gnomAD-4.0.0 4.79721E-06
21278 13 V/F 15 None 0.2047 None gnomAD-4.0.0 2.05577E-06
21279 14 T/S 16 rs1276354995 0.2189 None gnomAD-2.1.1 4.09E-06
21279 14 T/S 16 rs1276354995 0.2189 None gnomAD-4.0.0 1.6145E-06
21280 15 K/Q 17 None 0.4210 None gnomAD-4.0.0 1.59585E-06
21283 18 C/R 20 rs1375757273 0.0803 None gnomAD-2.1.1 4.07E-06
21283 18 C/R 20 rs1375757273 0.0803 None gnomAD-4.0.0 1.59512E-06
21284 19 H/R 21 rs769740117 0.3069 None gnomAD-2.1.1 1.63E-05
21284 19 H/R 21 rs769740117 0.3069 None gnomAD-4.0.0 6.43781E-06
21284 19 H/Y 21 None 0.3069 None gnomAD-4.0.0 1.5952E-06
21287 22 W/R 24 None 0.1030 None gnomAD-4.0.0 1.59661E-06
21288 23 A/D 25 rs2049247544 0.2260 None gnomAD-4.0.0 2.05421E-06
21288 23 A/V 25 rs2049247544 0.2260 None gnomAD-4.0.0 6.84736E-07
21290 25 P/S 27 rs986183406 0.1683 None gnomAD-2.1.1 1.44E-05
21290 25 P/S 27 rs986183406 0.1683 None gnomAD-3.1.2 1.97E-05
21290 25 P/S 27 rs986183406 0.1683 None gnomAD-4.0.0 8.06213E-06
21291 26 E/K 28 None 0.9736 None gnomAD-4.0.0 6.94381E-07
21292 27 N/D 29 None 0.4171 None gnomAD-4.0.0 6.92895E-07
21292 27 N/H 29 None 0.4171 None gnomAD-4.0.0 2.77219E-06
21292 27 N/Y 29 None 0.4171 None gnomAD-4.0.0 6.92895E-07
21293 28 D/E 30 rs200463088 0.2743 None gnomAD-2.1.1 1.62E-05
21293 28 D/E 30 rs200463088 0.2743 None gnomAD-4.0.0 6.8466E-07
21293 28 D/G 30 rs747240914 0.2743 None gnomAD-2.1.1 4.05E-06
21293 28 D/G 30 rs747240914 0.2743 None gnomAD-4.0.0 2.73845E-06
21293 28 D/N 30 rs199505416 0.2743 None gnomAD-2.1.1 7.7E-05
21293 28 D/N 30 rs199505416 0.2743 None gnomAD-3.1.2 7.24E-05
21293 28 D/N 30 rs199505416 0.2743 None gnomAD-4.0.0 1.12854E-04
21294 29 G/C 31 rs201119122 0.0983 None gnomAD-4.0.0 6.84631E-07
21294 29 G/D 31 None 0.0983 None gnomAD-4.0.0 1.20032E-06
21294 29 G/R 31 None 0.0983 None gnomAD-4.0.0 2.05389E-06
21294 29 G/S 31 rs201119122 0.0983 None gnomAD-2.1.1 4.46E-05
21294 29 G/S 31 rs201119122 0.0983 None gnomAD-3.1.2 2.63E-05
21294 29 G/S 31 rs201119122 0.0983 None gnomAD-4.0.0 2.0464E-05
21296 31 S/N 33 rs727503583 0.1696 None gnomAD-2.1.1 4.05E-06
21296 31 S/N 33 rs727503583 0.1696 None gnomAD-3.1.2 5.92E-05
21296 31 S/N 33 rs727503583 0.1696 None gnomAD-4.0.0 1.92407E-05
21296 31 S/R 33 rs750950584 0.1696 None gnomAD-2.1.1 8.09E-06
21296 31 S/R 33 rs750950584 0.1696 None gnomAD-3.1.2 6.58E-06
21296 31 S/R 33 rs750950584 0.1696 None gnomAD-4.0.0 6.84596E-07
21297 32 Q/R 34 rs372983838 0.8081 None gnomAD-4.0.0 2.05373E-06
21298 33 V/M 35 rs1236931080 0.2097 None gnomAD-2.1.1 4.04E-06
21298 33 V/M 35 rs1236931080 0.2097 None gnomAD-4.0.0 2.73829E-06
21299 34 T/A 36 rs774568660 0.3380 None gnomAD-4.0.0 1.59313E-06
21299 34 T/I 36 rs1031526299 0.3380 None gnomAD-2.1.1 6.38E-05
21299 34 T/I 36 rs1031526299 0.3380 None gnomAD-3.1.2 1.98E-05
21299 34 T/I 36 rs1031526299 0.3380 None gnomAD-4.0.0 5.13106E-06
21300 35 H/N 37 None 0.2027 None gnomAD-4.0.0 1.36909E-06
21300 35 H/R 37 rs757842155 0.2027 None gnomAD-2.1.1 1.21E-05
21300 35 H/R 37 rs757842155 0.2027 None gnomAD-4.0.0 3.42264E-06
21300 35 H/Y 37 rs376033054 0.2027 None gnomAD-2.1.1 4.04E-06
21300 35 H/Y 37 rs376033054 0.2027 None gnomAD-3.1.2 1.32E-05
21300 35 H/Y 37 rs376033054 0.2027 None gnomAD-4.0.0 1.86025E-06
21301 36 Y/C 38 None 0.1083 None gnomAD-4.0.0 1.5929E-06
21301 36 Y/F 38 rs1211406312 0.1083 None gnomAD-2.1.1 4.04E-06
21301 36 Y/F 38 rs1211406312 0.1083 None gnomAD-4.0.0 1.5929E-06
21301 36 Y/H 38 rs2049236578 0.1083 None gnomAD-4.0.0 1.59296E-06
21302 37 I/N 39 rs1228375240 0.2235 None gnomAD-3.1.2 6.58E-06
21302 37 I/N 39 rs1228375240 0.2235 None gnomAD-4.0.0 6.57912E-06
21302 37 I/V 39 None 0.2235 None gnomAD-4.0.0 6.84514E-07
21303 38 V/L 40 rs372812312 0.1006 None gnomAD-3.1.2 6.58E-06
21303 38 V/L 40 rs372812312 0.1006 None gnomAD-4.0.0 6.58025E-06
21303 38 V/M 40 rs372812312 0.1006 None gnomAD-2.1.1 8.89E-05
21303 38 V/M 40 rs372812312 0.1006 None gnomAD-3.1.2 3.29E-05
21303 38 V/M 40 rs372812312 0.1006 None gnomAD-4.0.0 7.31613E-05
21305 40 K/N 42 None 0.2315 None gnomAD-4.0.0 1.59279E-06
21306 41 R/C 43 rs773942316 0.1858 None gnomAD-2.1.1 3.23E-05
21306 41 R/C 43 rs773942316 0.1858 None gnomAD-3.1.2 6.58E-06
21306 41 R/C 43 rs773942316 0.1858 None gnomAD-4.0.0 1.98411E-05
21306 41 R/H 43 rs202240487 0.1858 None gnomAD-2.1.1 1.53426E-03
21306 41 R/H 43 rs202240487 0.1858 None gnomAD-3.1.2 5.00013E-04
21306 41 R/H 43 rs202240487 0.1858 None 1000 genomes 3.19489E-03
21306 41 R/H 43 rs202240487 0.1858 None gnomAD-4.0.0 9.64633E-04
21306 41 R/L 43 rs202240487 0.1858 None gnomAD-2.1.1 4.04E-06
21306 41 R/L 43 rs202240487 0.1858 None gnomAD-3.1.2 1.32E-05
21306 41 R/L 43 rs202240487 0.1858 None gnomAD-4.0.0 3.09994E-06
21308 43 A/E 50 rs772717263 0.2901 None gnomAD-3.1.2 6.58E-06
21308 43 A/E 50 rs772717263 0.2901 None gnomAD-4.0.0 4.06057E-06
21309 44 D/H 54 None 0.7615 None gnomAD-4.0.0 1.20032E-06
21310 45 R/K 60 None 0.5211 None gnomAD-4.0.0 1.20032E-06
21311 46 K/R 63 rs375535453 0.9925 None gnomAD-4.0.0 1.59255E-06
21313 48 W/R 65 None 0.2795 None gnomAD-4.0.0 1.59251E-06
21314 49 S/L 66 rs776468606 0.4317 None gnomAD-2.1.1 8.07E-06
21314 49 S/L 66 rs776468606 0.4317 None gnomAD-3.1.2 1.32E-05
21314 49 S/L 66 rs776468606 0.4317 None gnomAD-4.0.0 6.19968E-06
21314 49 S/P 66 None 0.4317 None gnomAD-4.0.0 6.84442E-06
21315 50 T/N 67 rs747246624 0.4479 None gnomAD-2.1.1 1.21E-05
21315 50 T/N 67 rs747246624 0.4479 None gnomAD-3.1.2 1.97E-05
21315 50 T/N 67 rs747246624 0.4479 None gnomAD-4.0.0 5.57954E-06
21316 51 V/I 68 rs772434894 0.2381 None gnomAD-2.1.1 2.82E-05
21316 51 V/I 68 rs772434894 0.2381 None gnomAD-3.1.2 3.29E-05
21316 51 V/I 68 rs772434894 0.2381 None gnomAD-4.0.0 2.04587E-05
21317 52 T/I 69 None 0.1503 None gnomAD-4.0.0 1.59254E-06
21320 55 V/F 77 rs1391961296 0.1123 None gnomAD-3.1.2 6.58E-06
21320 55 V/F 77 rs1391961296 0.1123 None gnomAD-4.0.0 6.57869E-06
21323 58 T/I 89 None 0.2736 None gnomAD-4.0.0 1.20032E-06
21324 59 S/G 90 None 0.2517 None gnomAD-4.0.0 1.20032E-06
21324 59 S/R 90 None 0.2517 None gnomAD-4.0.0 1.20032E-06
21326 61 H/L 92 None 0.4175 None gnomAD-4.0.0 6.84428E-07
21326 61 H/P 92 None 0.4175 None gnomAD-4.0.0 6.84428E-07
21326 61 H/R 92 rs994982613 0.4175 None gnomAD-2.1.1 1.43E-05
21326 61 H/R 92 rs994982613 0.4175 None gnomAD-3.1.2 3.95E-05
21326 61 H/R 92 rs994982613 0.4175 None gnomAD-4.0.0 1.23984E-05
21326 61 H/Y 92 rs1413306492 0.4175 None gnomAD-2.1.1 8.05E-06
21326 61 H/Y 92 rs1413306492 0.4175 None gnomAD-4.0.0 4.77731E-06
21327 62 V/I 93 rs779165086 0.1127 None gnomAD-2.1.1 8.05E-06
21327 62 V/I 93 rs779165086 0.1127 None gnomAD-4.0.0 6.36973E-06
21328 63 T/N 94 rs370506995 0.4171 None gnomAD-3.1.2 6.58E-06
21328 63 T/N 94 rs370506995 0.4171 None gnomAD-4.0.0 2.56422E-06
21329 64 N/S 96 rs754342548 0.8160 None gnomAD-2.1.1 2.82E-05
21329 64 N/S 96 rs754342548 0.8160 None gnomAD-3.1.2 4.61E-05
21329 64 N/S 96 rs754342548 0.8160 None gnomAD-4.0.0 1.73578E-05
21329 64 N/T 96 rs754342548 0.8160 None gnomAD-4.0.0 6.84404E-07
21330 65 L/F 97 rs778195959 0.1000 None gnomAD-2.1.1 4.02E-06
21330 65 L/F 97 rs778195959 0.1000 None gnomAD-4.0.0 6.15962E-06
21330 65 L/P 97 rs2049213559 0.1000 None gnomAD-4.0.0 3.18458E-06
21331 66 V/A 98 rs756494781 0.3894 None gnomAD-3.1.2 6.58E-06
21331 66 V/A 98 rs756494781 0.3894 None gnomAD-4.0.0 5.57917E-06
21331 66 V/G 98 rs756494781 0.3894 None gnomAD-2.1.1 4.02E-06
21331 66 V/G 98 rs756494781 0.3894 None gnomAD-4.0.0 2.05318E-06
21332 67 P/L 99 None 0.4132 None gnomAD-4.0.0 1.59227E-06
21332 67 P/S 99 None 0.4132 None gnomAD-4.0.0 1.3688E-06
21332 67 P/T 99 rs879031561 0.4132 None gnomAD-2.1.1 1.21E-05
21332 67 P/T 99 rs879031561 0.4132 None gnomAD-3.1.2 3.95E-05
21332 67 P/T 99 rs879031561 0.4132 None gnomAD-4.0.0 1.11587E-05
21333 68 G/R 100 rs2049211190 0.3718 None gnomAD-4.0.0 3.18457E-06
21334 69 N/K 102 rs765952193 0.2912 None gnomAD-2.1.1 1.21E-05
21334 69 N/K 102 rs765952193 0.2912 None gnomAD-4.0.0 1.43722E-05
21334 69 N/S 102 rs753121509 0.2912 None gnomAD-2.1.1 4.02E-06
21334 69 N/S 102 rs753121509 0.2912 None gnomAD-3.1.2 6.58E-06
21334 69 N/S 102 rs753121509 0.2912 None gnomAD-4.0.0 2.41763E-05
21335 70 E/K 103 rs773791222 0.4120 None gnomAD-2.1.1 2.14E-05
21335 70 E/K 103 rs773791222 0.4120 None gnomAD-3.1.2 5.26E-05
21335 70 E/K 103 rs773791222 0.4120 None gnomAD-4.0.0 1.11583E-05
21336 71 Y/C 104 None 0.0916 None gnomAD-4.0.0 1.20032E-06
21339 74 R/G 107 rs1357840635 0.1891 None gnomAD-2.1.1 4.02E-06
21339 74 R/G 107 rs1357840635 0.1891 None gnomAD-3.1.2 6.58E-06
21339 74 R/G 107 rs1357840635 0.1891 None gnomAD-4.0.0 6.57644E-06
21340 75 V/A 108 rs2049206770 0.0875 None gnomAD-4.0.0 1.59222E-06
21341 76 T/I 109 None 0.1314 None gnomAD-4.0.0 1.59221E-06
21341 76 T/S 109 None 0.1314 None gnomAD-4.0.0 4.8013E-06
21342 77 A/G 110 rs1218513536 0.0949 None gnomAD-2.1.1 8.04E-06
21342 77 A/G 110 rs1218513536 0.0949 None gnomAD-4.0.0 1.4372E-05
21342 77 A/V 110 None 0.0949 None gnomAD-4.0.0 6.84383E-07
21343 78 V/I 111 None 0.0985 None gnomAD-4.0.0 1.20032E-06
21343 78 V/L 111 None 0.0985 None gnomAD-4.0.0 2.40064E-06
21345 80 E/K 113 rs776495338 0.3897 None gnomAD-2.1.1 2.01E-05
21345 80 E/K 113 rs776495338 0.3897 None gnomAD-3.1.2 2.63E-05
21345 80 E/K 113 rs776495338 0.3897 None gnomAD-4.0.0 1.42579E-05
21346 81 Y/C 114 rs2154181993 0.3112 None gnomAD-4.0.0 1.36878E-06
21346 81 Y/H 114 rs1321825377 0.3112 None gnomAD-2.1.1 4.02E-06
21346 81 Y/H 114 rs1321825377 0.3112 None gnomAD-4.0.0 6.84394E-07
21346 81 Y/N 114 None 0.3112 None gnomAD-4.0.0 6.84394E-07
21348 83 P/S 117 rs1453250932 0.5883 None gnomAD-3.1.2 6.58E-06
21348 83 P/S 117 rs1453250932 0.5883 None gnomAD-4.0.0 1.23987E-06
21348 83 P/T 117 None 0.5883 None gnomAD-4.0.0 1.36879E-06
21350 85 V/F 119 None 0.3396 None gnomAD-4.0.0 4.79076E-06
21350 85 V/I 119 rs772377673 0.3396 None gnomAD-2.1.1 2.81E-05
21350 85 V/I 119 rs772377673 0.3396 None gnomAD-4.0.0 1.02659E-05
21351 86 P/S 120 rs1421350004 0.3062 None gnomAD-2.1.1 8.04E-06
21351 86 P/S 120 rs1421350004 0.3062 None gnomAD-4.0.0 1.27384E-05
21352 87 T/I 121 rs746114626 0.2054 None gnomAD-2.1.1 4.42E-05
21352 87 T/I 121 rs746114626 0.2054 None gnomAD-3.1.2 6.58E-06
21352 87 T/I 121 rs746114626 0.2054 None gnomAD-4.0.0 7.43883E-06
21353 88 D/G 122 None 0.3673 None gnomAD-4.0.0 6.84395E-07
21353 88 D/V 122 None 0.3673 None gnomAD-4.0.0 3.42198E-06
21354 89 V/I 123 None 0.1639 None gnomAD-4.0.0 3.60097E-06
21356 91 K/N 125 None 0.7898 None gnomAD-4.0.0 6.00161E-06
21358 93 V/M 127 rs371725212 0.2288 None gnomAD-2.1.1 3.22E-05
21358 93 V/M 127 rs371725212 0.2288 None gnomAD-3.1.2 1.97E-05
21358 93 V/M 127 rs371725212 0.2288 None gnomAD-4.0.0 2.17963E-05
21359 94 L/V 129 None 0.4434 None gnomAD-4.0.0 1.59242E-06
21360 95 A/P 130 None 0.0717 None gnomAD-4.0.0 1.5924E-06
21360 95 A/T 130 rs778085017 0.0717 None gnomAD-2.1.1 4.02E-06
21360 95 A/T 130 rs778085017 0.0717 None gnomAD-4.0.0 1.5924E-06
21362 97 D/H 132 None 0.5305 None gnomAD-4.0.0 1.59245E-06
21362 97 D/V 132 rs752967519 0.5305 None gnomAD-2.1.1 4.02E-06
21362 97 D/Y 132 rs756650236 0.5305 None gnomAD-2.1.1 4.02E-06