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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
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
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 0.3255 None gnomAD-3.1.2 6.58E-06
21266 1 T/A 1 rs1453662624 0.3255 None gnomAD-4.0.0 2.03051E-06
21266 1 T/I 1 None 0.3255 None gnomAD-4.0.0 2.061E-06
21266 1 T/S 1 None 0.3255 None gnomAD-4.0.0 6.87001E-07
21267 2 P/L 2 rs200365508 0.1289 None gnomAD-2.1.1 1.11E-05
21267 2 P/L 2 rs200365508 0.1289 None gnomAD-3.1.2 5.92E-05
21267 2 P/L 2 rs200365508 0.1289 None gnomAD-4.0.0 8.70561E-06
21268 3 G/E 3 None 0.2176 None gnomAD-4.0.0 1.60413E-06
21268 3 G/R 3 None 0.2176 None gnomAD-4.0.0 6.86558E-07
21268 3 G/V 3 None 0.2176 None gnomAD-4.0.0 1.60413E-06
21270 5 V/A 5 rs770388612 0.0953 None gnomAD-2.1.1 4.16E-06
21270 5 V/A 5 rs770388612 0.0953 None gnomAD-3.1.2 6.58E-06
21270 5 V/A 5 rs770388612 0.0953 None gnomAD-4.0.0 4.34837E-06
21270 5 V/M 5 rs773891427 0.0953 None gnomAD-2.1.1 4.16E-06
21270 5 V/M 5 rs773891427 0.0953 None gnomAD-4.0.0 1.60165E-06
21272 7 D/E 7 None 0.6094 None gnomAD-4.0.0 6.85636E-07
21272 7 D/Y 7 rs376015249 0.6094 None gnomAD-2.1.1 4.14E-06
21274 9 K/E 11 rs886042547 0.5329 None gnomAD-4.0.0 1.20032E-06
21274 9 K/T 11 None 0.5329 None gnomAD-4.0.0 1.59787E-06
21275 10 V/L 12 rs2049255613 0.3359 None gnomAD-4.0.0 1.6062E-06
21277 12 D/N 14 rs2049253649 0.4136 None gnomAD-4.0.0 4.79721E-06
21278 13 V/F 15 None 0.3552 None gnomAD-4.0.0 2.05577E-06
21279 14 T/S 16 rs1276354995 0.3075 None gnomAD-2.1.1 4.09E-06
21279 14 T/S 16 rs1276354995 0.3075 None gnomAD-4.0.0 1.6145E-06
21280 15 K/Q 17 None 0.4780 None gnomAD-4.0.0 1.59585E-06
21283 18 C/R 20 rs1375757273 0.0917 None gnomAD-2.1.1 4.07E-06
21283 18 C/R 20 rs1375757273 0.0917 None gnomAD-4.0.0 1.59512E-06
21284 19 H/R 21 rs769740117 0.2384 None gnomAD-2.1.1 1.63E-05
21284 19 H/R 21 rs769740117 0.2384 None gnomAD-4.0.0 6.43781E-06
21284 19 H/Y 21 None 0.2384 None gnomAD-4.0.0 1.5952E-06
21287 22 W/R 24 None 0.1042 None gnomAD-4.0.0 1.59661E-06
21288 23 A/D 25 rs2049247544 0.2442 None gnomAD-4.0.0 2.05421E-06
21288 23 A/V 25 rs2049247544 0.2442 None gnomAD-4.0.0 6.84736E-07
21290 25 P/S 27 rs986183406 0.1996 None gnomAD-2.1.1 1.44E-05
21290 25 P/S 27 rs986183406 0.1996 None gnomAD-3.1.2 1.97E-05
21290 25 P/S 27 rs986183406 0.1996 None gnomAD-4.0.0 8.06213E-06
21291 26 E/K 28 None 0.6824 None gnomAD-4.0.0 6.94381E-07
21292 27 N/D 29 None 0.5176 None gnomAD-4.0.0 6.92895E-07
21292 27 N/H 29 None 0.5176 None gnomAD-4.0.0 2.77219E-06
21292 27 N/Y 29 None 0.5176 None gnomAD-4.0.0 6.92895E-07
21293 28 D/E 30 rs200463088 0.3637 None gnomAD-2.1.1 1.62E-05
21293 28 D/E 30 rs200463088 0.3637 None gnomAD-4.0.0 6.8466E-07
21293 28 D/G 30 rs747240914 0.3637 None gnomAD-2.1.1 4.05E-06
21293 28 D/G 30 rs747240914 0.3637 None gnomAD-4.0.0 2.73845E-06
21293 28 D/N 30 rs199505416 0.3637 None gnomAD-2.1.1 7.7E-05
21293 28 D/N 30 rs199505416 0.3637 None gnomAD-3.1.2 7.24E-05
21293 28 D/N 30 rs199505416 0.3637 None gnomAD-4.0.0 1.12854E-04
21294 29 G/C 31 rs201119122 0.2737 None gnomAD-4.0.0 6.84631E-07
21294 29 G/D 31 None 0.2737 None gnomAD-4.0.0 1.20032E-06
21294 29 G/R 31 None 0.2737 None gnomAD-4.0.0 2.05389E-06
21294 29 G/S 31 rs201119122 0.2737 None gnomAD-2.1.1 4.46E-05
21294 29 G/S 31 rs201119122 0.2737 None gnomAD-3.1.2 2.63E-05
21294 29 G/S 31 rs201119122 0.2737 None gnomAD-4.0.0 2.0464E-05
21296 31 S/N 33 rs727503583 0.1398 None gnomAD-2.1.1 4.05E-06
21296 31 S/N 33 rs727503583 0.1398 None gnomAD-3.1.2 5.92E-05
21296 31 S/N 33 rs727503583 0.1398 None gnomAD-4.0.0 1.92407E-05
21296 31 S/R 33 rs750950584 0.1398 None gnomAD-2.1.1 8.09E-06
21296 31 S/R 33 rs750950584 0.1398 None gnomAD-3.1.2 6.58E-06
21296 31 S/R 33 rs750950584 0.1398 None gnomAD-4.0.0 6.84596E-07
21297 32 Q/R 34 rs372983838 0.7633 None gnomAD-4.0.0 2.05373E-06
21298 33 V/M 35 rs1236931080 0.3024 None gnomAD-2.1.1 4.04E-06
21298 33 V/M 35 rs1236931080 0.3024 None gnomAD-4.0.0 2.73829E-06
21299 34 T/A 36 rs774568660 0.4479 None gnomAD-4.0.0 1.59313E-06
21299 34 T/I 36 rs1031526299 0.4479 None gnomAD-2.1.1 6.38E-05
21299 34 T/I 36 rs1031526299 0.4479 None gnomAD-3.1.2 1.98E-05
21299 34 T/I 36 rs1031526299 0.4479 None gnomAD-4.0.0 5.13106E-06
21300 35 H/N 37 None 0.2763 None gnomAD-4.0.0 1.36909E-06
21300 35 H/R 37 rs757842155 0.2763 None gnomAD-2.1.1 1.21E-05
21300 35 H/R 37 rs757842155 0.2763 None gnomAD-4.0.0 3.42264E-06
21300 35 H/Y 37 rs376033054 0.2763 None gnomAD-2.1.1 4.04E-06
21300 35 H/Y 37 rs376033054 0.2763 None gnomAD-3.1.2 1.32E-05
21300 35 H/Y 37 rs376033054 0.2763 None gnomAD-4.0.0 1.86025E-06
21301 36 Y/C 38 None 0.1355 None gnomAD-4.0.0 1.5929E-06
21301 36 Y/F 38 rs1211406312 0.1355 None gnomAD-2.1.1 4.04E-06
21301 36 Y/F 38 rs1211406312 0.1355 None gnomAD-4.0.0 1.5929E-06
21301 36 Y/H 38 rs2049236578 0.1355 None gnomAD-4.0.0 1.59296E-06
21302 37 I/N 39 rs1228375240 0.2459 None gnomAD-3.1.2 6.58E-06
21302 37 I/N 39 rs1228375240 0.2459 None gnomAD-4.0.0 6.57912E-06
21302 37 I/V 39 None 0.2459 None gnomAD-4.0.0 6.84514E-07
21303 38 V/L 40 rs372812312 0.0806 None gnomAD-3.1.2 6.58E-06
21303 38 V/L 40 rs372812312 0.0806 None gnomAD-4.0.0 6.58025E-06
21303 38 V/M 40 rs372812312 0.0806 None gnomAD-2.1.1 8.89E-05
21303 38 V/M 40 rs372812312 0.0806 None gnomAD-3.1.2 3.29E-05
21303 38 V/M 40 rs372812312 0.0806 None gnomAD-4.0.0 7.31613E-05
21305 40 K/N 42 None 0.2299 None gnomAD-4.0.0 1.59279E-06
21306 41 R/C 43 rs773942316 0.1091 None gnomAD-2.1.1 3.23E-05
21306 41 R/C 43 rs773942316 0.1091 None gnomAD-3.1.2 6.58E-06
21306 41 R/C 43 rs773942316 0.1091 None gnomAD-4.0.0 1.98411E-05
21306 41 R/H 43 rs202240487 0.1091 None gnomAD-2.1.1 1.53426E-03
21306 41 R/H 43 rs202240487 0.1091 None gnomAD-3.1.2 5.00013E-04
21306 41 R/H 43 rs202240487 0.1091 None 1000 genomes 3.19489E-03
21306 41 R/H 43 rs202240487 0.1091 None gnomAD-4.0.0 9.64633E-04
21306 41 R/L 43 rs202240487 0.1091 None gnomAD-2.1.1 4.04E-06
21306 41 R/L 43 rs202240487 0.1091 None gnomAD-3.1.2 1.32E-05
21306 41 R/L 43 rs202240487 0.1091 None gnomAD-4.0.0 3.09994E-06
21308 43 A/E 50 rs772717263 0.2036 None gnomAD-3.1.2 6.58E-06
21308 43 A/E 50 rs772717263 0.2036 None gnomAD-4.0.0 4.06057E-06
21309 44 D/H 54 None 0.3690 None gnomAD-4.0.0 1.20032E-06
21310 45 R/K 60 None 0.4431 None gnomAD-4.0.0 1.20032E-06
21311 46 K/R 63 rs375535453 0.9092 None gnomAD-4.0.0 1.59255E-06
21313 48 W/R 65 None 0.3102 None gnomAD-4.0.0 1.59251E-06
21314 49 S/L 66 rs776468606 0.4419 None gnomAD-2.1.1 8.07E-06
21314 49 S/L 66 rs776468606 0.4419 None gnomAD-3.1.2 1.32E-05
21314 49 S/L 66 rs776468606 0.4419 None gnomAD-4.0.0 6.19968E-06
21314 49 S/P 66 None 0.4419 None gnomAD-4.0.0 6.84442E-06
21315 50 T/N 67 rs747246624 0.3390 None gnomAD-2.1.1 1.21E-05
21315 50 T/N 67 rs747246624 0.3390 None gnomAD-3.1.2 1.97E-05
21315 50 T/N 67 rs747246624 0.3390 None gnomAD-4.0.0 5.57954E-06
21316 51 V/I 68 rs772434894 0.1943 None gnomAD-2.1.1 2.82E-05
21316 51 V/I 68 rs772434894 0.1943 None gnomAD-3.1.2 3.29E-05
21316 51 V/I 68 rs772434894 0.1943 None gnomAD-4.0.0 2.04587E-05
21317 52 T/I 69 None 0.1006 None gnomAD-4.0.0 1.59254E-06
21320 55 V/F 77 rs1391961296 0.1043 None gnomAD-3.1.2 6.58E-06
21320 55 V/F 77 rs1391961296 0.1043 None gnomAD-4.0.0 6.57869E-06
21323 58 T/I 89 None 0.3470 None gnomAD-4.0.0 1.20032E-06
21324 59 S/G 90 None 0.2136 None gnomAD-4.0.0 1.20032E-06
21324 59 S/R 90 None 0.2136 None gnomAD-4.0.0 1.20032E-06
21326 61 H/L 92 None 0.3076 None gnomAD-4.0.0 6.84428E-07
21326 61 H/P 92 None 0.3076 None gnomAD-4.0.0 6.84428E-07
21326 61 H/R 92 rs994982613 0.3076 None gnomAD-2.1.1 1.43E-05
21326 61 H/R 92 rs994982613 0.3076 None gnomAD-3.1.2 3.95E-05
21326 61 H/R 92 rs994982613 0.3076 None gnomAD-4.0.0 1.23984E-05
21326 61 H/Y 92 rs1413306492 0.3076 None gnomAD-2.1.1 8.05E-06
21326 61 H/Y 92 rs1413306492 0.3076 None gnomAD-4.0.0 4.77731E-06
21327 62 V/I 93 rs779165086 0.1188 None gnomAD-2.1.1 8.05E-06
21327 62 V/I 93 rs779165086 0.1188 None gnomAD-4.0.0 6.36973E-06
21328 63 T/N 94 rs370506995 0.3868 None gnomAD-3.1.2 6.58E-06
21328 63 T/N 94 rs370506995 0.3868 None gnomAD-4.0.0 2.56422E-06
21329 64 N/S 96 rs754342548 0.8780 None gnomAD-2.1.1 2.82E-05
21329 64 N/S 96 rs754342548 0.8780 None gnomAD-3.1.2 4.61E-05
21329 64 N/S 96 rs754342548 0.8780 None gnomAD-4.0.0 1.73578E-05
21329 64 N/T 96 rs754342548 0.8780 None gnomAD-4.0.0 6.84404E-07
21330 65 L/F 97 rs778195959 0.0992 None gnomAD-2.1.1 4.02E-06
21330 65 L/F 97 rs778195959 0.0992 None gnomAD-4.0.0 6.15962E-06
21330 65 L/P 97 rs2049213559 0.0992 None gnomAD-4.0.0 3.18458E-06
21331 66 V/A 98 rs756494781 0.4221 None gnomAD-3.1.2 6.58E-06
21331 66 V/A 98 rs756494781 0.4221 None gnomAD-4.0.0 5.57917E-06
21331 66 V/G 98 rs756494781 0.4221 None gnomAD-2.1.1 4.02E-06
21331 66 V/G 98 rs756494781 0.4221 None gnomAD-4.0.0 2.05318E-06
21332 67 P/L 99 None 0.3980 None gnomAD-4.0.0 1.59227E-06
21332 67 P/S 99 None 0.3980 None gnomAD-4.0.0 1.3688E-06
21332 67 P/T 99 rs879031561 0.3980 None gnomAD-2.1.1 1.21E-05
21332 67 P/T 99 rs879031561 0.3980 None gnomAD-3.1.2 3.95E-05
21332 67 P/T 99 rs879031561 0.3980 None gnomAD-4.0.0 1.11587E-05
21333 68 G/R 100 rs2049211190 0.4458 None gnomAD-4.0.0 3.18457E-06
21334 69 N/K 102 rs765952193 0.1821 None gnomAD-2.1.1 1.21E-05
21334 69 N/K 102 rs765952193 0.1821 None gnomAD-4.0.0 1.43722E-05
21334 69 N/S 102 rs753121509 0.1821 None gnomAD-2.1.1 4.02E-06
21334 69 N/S 102 rs753121509 0.1821 None gnomAD-3.1.2 6.58E-06
21334 69 N/S 102 rs753121509 0.1821 None gnomAD-4.0.0 2.41763E-05
21335 70 E/K 103 rs773791222 0.4716 None gnomAD-2.1.1 2.14E-05
21335 70 E/K 103 rs773791222 0.4716 None gnomAD-3.1.2 5.26E-05
21335 70 E/K 103 rs773791222 0.4716 None gnomAD-4.0.0 1.11583E-05
21336 71 Y/C 104 None 0.0777 None gnomAD-4.0.0 1.20032E-06
21339 74 R/G 107 rs1357840635 0.1527 None gnomAD-2.1.1 4.02E-06
21339 74 R/G 107 rs1357840635 0.1527 None gnomAD-3.1.2 6.58E-06
21339 74 R/G 107 rs1357840635 0.1527 None gnomAD-4.0.0 6.57644E-06
21340 75 V/A 108 rs2049206770 0.0829 None gnomAD-4.0.0 1.59222E-06
21341 76 T/I 109 None 0.1532 None gnomAD-4.0.0 1.59221E-06
21341 76 T/S 109 None 0.1532 None gnomAD-4.0.0 4.8013E-06
21342 77 A/G 110 rs1218513536 0.1065 None gnomAD-2.1.1 8.04E-06
21342 77 A/G 110 rs1218513536 0.1065 None gnomAD-4.0.0 1.4372E-05
21342 77 A/V 110 None 0.1065 None gnomAD-4.0.0 6.84383E-07
21343 78 V/I 111 None 0.1601 None gnomAD-4.0.0 1.20032E-06
21343 78 V/L 111 None 0.1601 None gnomAD-4.0.0 2.40064E-06
21345 80 E/K 113 rs776495338 0.4594 None gnomAD-2.1.1 2.01E-05
21345 80 E/K 113 rs776495338 0.4594 None gnomAD-3.1.2 2.63E-05
21345 80 E/K 113 rs776495338 0.4594 None gnomAD-4.0.0 1.42579E-05
21346 81 Y/C 114 rs2154181993 0.4156 None gnomAD-4.0.0 1.36878E-06
21346 81 Y/H 114 rs1321825377 0.4156 None gnomAD-2.1.1 4.02E-06
21346 81 Y/H 114 rs1321825377 0.4156 None gnomAD-4.0.0 6.84394E-07
21346 81 Y/N 114 None 0.4156 None gnomAD-4.0.0 6.84394E-07
21348 83 P/S 117 rs1453250932 0.5997 None gnomAD-3.1.2 6.58E-06
21348 83 P/S 117 rs1453250932 0.5997 None gnomAD-4.0.0 1.23987E-06
21348 83 P/T 117 None 0.5997 None gnomAD-4.0.0 1.36879E-06
21350 85 V/F 119 None 0.3722 None gnomAD-4.0.0 4.79076E-06
21350 85 V/I 119 rs772377673 0.3722 None gnomAD-2.1.1 2.81E-05
21350 85 V/I 119 rs772377673 0.3722 None gnomAD-4.0.0 1.02659E-05
21351 86 P/S 120 rs1421350004 0.3136 None gnomAD-2.1.1 8.04E-06
21351 86 P/S 120 rs1421350004 0.3136 None gnomAD-4.0.0 1.27384E-05
21352 87 T/I 121 rs746114626 0.1584 None gnomAD-2.1.1 4.42E-05
21352 87 T/I 121 rs746114626 0.1584 None gnomAD-3.1.2 6.58E-06
21352 87 T/I 121 rs746114626 0.1584 None gnomAD-4.0.0 7.43883E-06
21353 88 D/G 122 None 0.4813 None gnomAD-4.0.0 6.84395E-07
21353 88 D/V 122 None 0.4813 None gnomAD-4.0.0 3.42198E-06
21354 89 V/I 123 None 0.1467 None gnomAD-4.0.0 3.60097E-06
21356 91 K/N 125 None 0.7106 None gnomAD-4.0.0 6.00161E-06
21358 93 V/M 127 rs371725212 0.2396 None gnomAD-2.1.1 3.22E-05
21358 93 V/M 127 rs371725212 0.2396 None gnomAD-3.1.2 1.97E-05
21358 93 V/M 127 rs371725212 0.2396 None gnomAD-4.0.0 2.17963E-05
21359 94 L/V 129 None 0.4721 None gnomAD-4.0.0 1.59242E-06
21360 95 A/P 130 None 0.0799 None gnomAD-4.0.0 1.5924E-06
21360 95 A/T 130 rs778085017 0.0799 None gnomAD-2.1.1 4.02E-06
21360 95 A/T 130 rs778085017 0.0799 None gnomAD-4.0.0 1.5924E-06
21362 97 D/H 132 None 1.1060 None gnomAD-4.0.0 1.59245E-06
21362 97 D/V 132 rs752967519 1.1060 None gnomAD-2.1.1 4.02E-06
21362 97 D/Y 132 rs756650236 1.1060 None gnomAD-2.1.1 4.02E-06