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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
22265 1 A/E 1 rs750836266 0.4231 None gnomAD-2.1.1 4.1E-06
22265 1 A/E 1 rs750836266 0.4231 None gnomAD-4.0.0 2.05737E-06
22265 1 A/V 1 rs750836266 0.4231 None gnomAD-2.1.1 1.76336E-04
22265 1 A/V 1 rs750836266 0.4231 None gnomAD-3.1.2 3.29E-05
22265 1 A/V 1 rs750836266 0.4231 None gnomAD-4.0.0 8.07281E-05
22266 2 D/E 2 rs1380514691 0.7267 None gnomAD-2.1.1 4.08E-06
22266 2 D/E 2 rs1380514691 0.7267 None gnomAD-4.0.0 6.8535E-07
22266 2 D/N 2 None 0.7267 None gnomAD-4.0.0 1.59782E-06
22267 3 L/F 3 None 0.2196 None gnomAD-4.0.0 6.00161E-06
22267 3 L/V 3 rs2047467228 0.2196 None gnomAD-4.0.0 1.37066E-06
22268 4 R/G 4 rs762044819 0.5329 None gnomAD-2.1.1 4.07E-06
22268 4 R/G 4 rs762044819 0.5329 None gnomAD-4.0.0 1.59682E-06
22268 4 R/K 4 None 0.5329 None gnomAD-4.0.0 6.85231E-07
22268 4 R/M 4 None 0.5329 None gnomAD-4.0.0 2.05569E-06
22270 6 T/I 11 rs2047465405 0.4198 None gnomAD-3.1.2 6.58E-06
22270 6 T/I 11 rs2047465405 0.4198 None gnomAD-4.0.0 6.57514E-06
22271 7 L/F 13 rs2047464424 0.3094 None gnomAD-4.0.0 2.73965E-06
22271 7 L/I 13 rs2047464424 0.3094 None gnomAD-3.1.2 6.57E-06
22271 7 L/I 13 rs2047464424 0.3094 None gnomAD-4.0.0 6.57471E-06
22271 7 L/R 13 None 0.3094 None gnomAD-4.0.0 1.20033E-06
22271 7 L/V 13 None 0.3094 None gnomAD-4.0.0 6.84913E-07
22272 8 I/M 14 rs1460711951 0.5012 None gnomAD-3.1.2 6.57E-06
22272 8 I/M 14 rs1460711951 0.5012 None gnomAD-4.0.0 2.03001E-06
22272 8 I/T 14 rs773998250 0.5012 None gnomAD-2.1.1 2.03E-05
22272 8 I/T 14 rs773998250 0.5012 None gnomAD-3.1.2 1.97E-05
22272 8 I/T 14 rs773998250 0.5012 None gnomAD-4.0.0 1.48854E-05
22273 9 L/I 16 None 0.2232 None gnomAD-4.0.0 1.5946E-06
22274 10 R/C 18 rs770627108 0.7867 None gnomAD-2.1.1 8.11E-06
22274 10 R/C 18 rs770627108 0.7867 None gnomAD-3.1.2 1.32E-05
22274 10 R/C 18 rs770627108 0.7867 None gnomAD-4.0.0 2.35703E-05
22274 10 R/H 18 None 0.7867 None gnomAD-2.1.1 1.21E-05
22274 10 R/H 18 None 0.7867 None gnomAD-4.0.0 9.58641E-06
22274 10 R/L 18 rs772979195 0.7867 None gnomAD-2.1.1 1.62E-05
22274 10 R/L 18 rs772979195 0.7867 None gnomAD-3.1.2 6.58E-06
22274 10 R/L 18 rs772979195 0.7867 None gnomAD-4.0.0 2.48069E-06
22275 11 A/P 23 None 0.4246 None gnomAD-4.0.0 1.20034E-06
22275 11 A/V 23 rs781002289 0.4246 None gnomAD-2.1.1 1.21E-05
22275 11 A/V 23 rs781002289 0.4246 None gnomAD-4.0.0 1.20033E-06
22277 13 V/A 25 rs768860754 0.3138 None gnomAD-2.1.1 4.05E-06
22278 14 T/I 26 rs1449367862 0.2729 None gnomAD-2.1.1 4.04E-06
22278 14 T/I 26 rs1449367862 0.2729 None gnomAD-4.0.0 7.96889E-06
22279 15 M/R 28 rs758406122 0.1175 None gnomAD-2.1.1 1.62E-05
22279 15 M/R 28 rs758406122 0.1175 None gnomAD-4.0.0 6.162E-06
22279 15 M/V 28 rs780268398 0.1175 None gnomAD-2.1.1 1.62E-05
22279 15 M/V 28 rs780268398 0.1175 None gnomAD-4.0.0 4.10802E-06
22282 18 Y/H 31 rs745992545 0.3977 None gnomAD-2.1.1 2.87E-05
22282 18 Y/H 31 rs745992545 0.3977 None gnomAD-3.1.2 9.86E-05
22282 18 Y/H 31 rs745992545 0.3977 None gnomAD-4.0.0 1.67421E-05
22283 19 V/A 33 rs1246688280 0.1097 None gnomAD-2.1.1 4.04E-06
22283 19 V/A 33 rs1246688280 0.1097 None gnomAD-4.0.0 1.59361E-06
22283 19 V/I 33 rs554828165 0.1097 None gnomAD-2.1.1 2.83E-05
22283 19 V/I 33 rs554828165 0.1097 None gnomAD-3.1.2 1.31E-05
22283 19 V/I 33 rs554828165 0.1097 None 1000 genomes 1.99681E-04
22283 19 V/I 33 rs554828165 0.1097 None gnomAD-4.0.0 1.4261E-05
22284 20 P/L 34 None 0.2305 None gnomAD-4.0.0 6.16186E-06
22284 20 P/S 34 None 0.2305 None gnomAD-4.0.0 1.36929E-06
22284 20 P/T 34 None 0.2305 None gnomAD-4.0.0 6.84644E-07
22285 21 V/I 35 None 0.1353 None gnomAD-4.0.0 6.84633E-07
22285 21 V/L 35 rs754121833 0.1353 None gnomAD-2.1.1 4.04E-06
22285 21 V/L 35 rs754121833 0.1353 None gnomAD-4.0.0 6.84633E-07
22287 23 G/R 40 rs1268203596 0.1159 None gnomAD-2.1.1 4.04E-06
22287 23 G/R 40 rs1268203596 0.1159 None gnomAD-4.0.0 3.4231E-06
22288 24 R/C 41 rs367665060 0.1204 None gnomAD-2.1.1 2.87E-05
22288 24 R/C 41 rs367665060 0.1204 None gnomAD-3.1.2 5.26E-05
22288 24 R/C 41 rs367665060 0.1204 None gnomAD-4.0.0 2.17031E-05
22288 24 R/H 41 rs537871205 0.1204 None gnomAD-2.1.1 2.15E-05
22288 24 R/H 41 rs537871205 0.1204 None gnomAD-3.1.2 3.29E-05
22288 24 R/H 41 rs537871205 0.1204 None 1000 genomes 1.99681E-04
22288 24 R/H 41 rs537871205 0.1204 None gnomAD-4.0.0 1.17806E-05
22288 24 R/S 41 None 0.1204 None gnomAD-4.0.0 1.36923E-06
22289 25 P/L 42 rs751203353 0.3573 None gnomAD-2.1.1 4.04E-06
22289 25 P/L 42 rs751203353 0.3573 None gnomAD-4.0.0 1.59339E-06
22290 26 P/S 43 None 0.4103 None gnomAD-4.0.0 1.59328E-06
22291 27 P/T 44 None 0.1533 None gnomAD-4.0.0 3.18653E-06
22292 28 K/T 45 None 0.6743 None gnomAD-4.0.0 1.20032E-06
22293 29 I/T 46 rs766138542 0.2012 None gnomAD-2.1.1 4.03E-06
22293 29 I/T 46 rs766138542 0.2012 None gnomAD-4.0.0 1.59312E-06
22294 30 T/S 47 rs2047448209 0.4109 None gnomAD-4.0.0 2.05367E-06
22295 31 W/C 48 rs1202934929 0.2607 None gnomAD-3.1.2 6.58E-06
22295 31 W/C 48 rs1202934929 0.2607 None gnomAD-4.0.0 2.56498E-06
22296 32 S/C 49 None 0.3432 None gnomAD-4.0.0 1.5931E-06
22297 33 K/N 50 rs1013098448 0.1309 None gnomAD-3.1.2 6.58E-06
22297 33 K/N 50 rs1013098448 0.1309 None gnomAD-4.0.0 6.57583E-06
22298 34 P/S 51 rs72646871 0.4977 None gnomAD-2.1.1 8.06E-06
22298 34 P/S 51 rs72646871 0.4977 None gnomAD-4.0.0 4.77931E-06
22300 36 V/I 55 rs200343420 0.3683 None gnomAD-2.1.1 3.75668E-04
22300 36 V/I 55 rs200343420 0.3683 None gnomAD-3.1.2 1.00638E-03
22300 36 V/I 55 rs200343420 0.3683 None 1000 genomes 3.99361E-04
22300 36 V/I 55 rs200343420 0.3683 None gnomAD-4.0.0 1.81648E-04
22301 37 N/S 56 rs772823241 0.4422 None gnomAD-2.1.1 1.21E-05
22301 37 N/S 56 rs772823241 0.4422 None gnomAD-3.1.2 1.97E-05
22301 37 N/S 56 rs772823241 0.4422 None gnomAD-4.0.0 3.03787E-05
22304 40 D/N 70 None 0.6387 None gnomAD-4.0.0 1.59281E-06
22305 41 R/G 73 None 0.1644 None gnomAD-4.0.0 1.20032E-06
22305 41 R/T 73 None 0.1644 None gnomAD-4.0.0 1.59277E-06
22306 42 I/F 102 None 1.1245 None gnomAD-4.0.0 1.59274E-06
22306 42 I/N 102 None 1.1245 None gnomAD-4.0.0 1.36895E-06
22306 42 I/T 102 rs397517667 1.1245 None gnomAD-2.1.1 2.32447E-04
22306 42 I/T 102 rs397517667 1.1245 None gnomAD-3.1.2 1.11844E-04
22306 42 I/T 102 rs397517667 1.1245 None gnomAD-4.0.0 1.14075E-04
22308 44 L/P 121 None 0.2247 None gnomAD-4.0.0 1.20032E-06
22309 45 D/A 122 None 0.4322 None gnomAD-4.0.0 6.84466E-07
22309 45 D/G 122 rs1481781346 0.4322 None gnomAD-3.1.2 6.58E-06
22309 45 D/G 122 rs1481781346 0.4322 None gnomAD-4.0.0 6.5754E-06
22309 45 D/H 122 rs1204440058 0.4322 None gnomAD-2.1.1 4.03E-06
22309 45 D/H 122 rs1204440058 0.4322 None gnomAD-4.0.0 2.05342E-06
22309 45 D/N 122 rs1204440058 0.4322 None gnomAD-3.1.2 6.58E-06
22309 45 D/N 122 rs1204440058 0.4322 None gnomAD-4.0.0 2.47987E-06
22309 45 D/V 122 rs1481781346 0.4322 None gnomAD-4.0.0 4.10679E-06
22310 46 I/L 123 rs1315282961 0.2742 None gnomAD-2.1.1 3.19E-05
22310 46 I/L 123 rs1315282961 0.2742 None gnomAD-3.1.2 6.58E-06
22310 46 I/L 123 rs1315282961 0.2742 None gnomAD-4.0.0 6.57549E-06
22313 49 T/A 130 rs761874347 0.3779 None gnomAD-2.1.1 2.01E-05
22313 49 T/A 130 rs761874347 0.3779 None gnomAD-3.1.2 6.57E-06
22313 49 T/A 130 rs761874347 0.3779 None gnomAD-4.0.0 1.02558E-05
22313 49 T/P 130 rs761874347 0.3779 None gnomAD-3.1.2 6.57E-06
22313 49 T/P 130 rs761874347 0.3779 None gnomAD-4.0.0 6.57436E-06
22313 49 T/S 130 rs2047437261 0.3779 None gnomAD-4.0.0 1.59248E-06
22314 50 D/E 131 None 0.4923 None gnomAD-4.0.0 1.59247E-06
22314 50 D/N 131 rs768380109 0.4923 None gnomAD-2.1.1 4.03E-06
22314 50 D/N 131 rs768380109 0.4923 None gnomAD-4.0.0 6.8444E-07
22314 50 D/Y 131 rs768380109 0.4923 None gnomAD-2.1.1 8.06E-06
22314 50 D/Y 131 rs768380109 0.4923 None gnomAD-3.1.2 4.6E-05
22314 50 D/Y 131 rs768380109 0.4923 None gnomAD-4.0.0 1.61168E-05
22315 51 F/L 134 rs746811214 0.3721 None gnomAD-4.0.0 2.05329E-06
22315 51 F/V 134 rs746811214 0.3721 None gnomAD-2.1.1 2.01E-05
22315 51 F/V 134 rs746811214 0.3721 None gnomAD-3.1.2 1.97E-05
22315 51 F/V 134 rs746811214 0.3721 None gnomAD-4.0.0 1.11583E-05
22316 52 D/E 135 None 0.2424 None gnomAD-4.0.0 6.84438E-07
22316 52 D/N 135 rs948813723 0.2424 None gnomAD-3.1.2 1.97E-05
22316 52 D/N 135 rs948813723 0.2424 None gnomAD-4.0.0 8.67904E-06
22317 53 T/A 136 None 0.1067 None gnomAD-4.0.0 6.84426E-07
22317 53 T/P 136 None 0.1067 None gnomAD-4.0.0 6.84426E-07
22317 53 T/S 136 None 0.1067 None gnomAD-4.0.0 1.59248E-06
22318 54 F/L 137 rs1282369228 0.2503 None gnomAD-2.1.1 8.06E-06
22318 54 F/L 137 rs1282369228 0.2503 None gnomAD-3.1.2 6.58E-06
22318 54 F/L 137 rs1282369228 0.2503 None gnomAD-4.0.0 3.09963E-06
22318 54 F/S 137 None 0.2503 None gnomAD-4.0.0 4.77734E-06
22319 55 L/V 138 None 0.0822 None gnomAD-4.0.0 1.59248E-06
22320 56 R/C 139 rs772361876 0.3911 None gnomAD-2.1.1 2.01E-05
22320 56 R/C 139 rs772361876 0.3911 None gnomAD-3.1.2 6.58E-06
22320 56 R/C 139 rs772361876 0.3911 None gnomAD-4.0.0 1.92173E-05
22320 56 R/H 139 rs771424865 0.3911 None gnomAD-2.1.1 3.93E-05
22320 56 R/H 139 rs771424865 0.3911 None gnomAD-3.1.2 4.6E-05
22320 56 R/H 139 rs771424865 0.3911 None gnomAD-4.0.0 2.72773E-05
22320 56 R/L 139 None 0.3911 None gnomAD-4.0.0 1.3689E-06
22322 58 E/G 141 None 0.4836 None gnomAD-4.0.0 1.20033E-06
22323 59 N/I 143 None 0.7211 None gnomAD-4.0.0 1.20036E-06
22324 60 V/M 144 rs2154176354 0.1017 None gnomAD-4.0.0 1.36885E-06
22325 61 N/S 145 None 0.2755 None gnomAD-4.0.0 1.5924E-06
22326 62 K/Q 146 None 0.5009 None gnomAD-4.0.0 1.59239E-06
22326 62 K/R 146 rs202125813 0.5009 None gnomAD-2.1.1 4.93463E-04
22326 62 K/R 146 rs202125813 0.5009 None gnomAD-3.1.2 1.63049E-03
22326 62 K/R 146 rs202125813 0.5009 None 1000 genomes 9.98403E-04
22326 62 K/R 146 rs202125813 0.5009 None gnomAD-4.0.0 3.01865E-04
22327 63 Y/C 148 rs757701692 0.6827 None gnomAD-2.1.1 4.03E-06
22327 63 Y/C 148 rs757701692 0.6827 None gnomAD-4.0.0 1.59235E-06
22328 64 D/N 149 None 0.1560 None gnomAD-4.0.0 1.59242E-06
22328 64 D/V 149 rs749871897 0.1560 None gnomAD-2.1.1 4.03E-06
22328 64 D/V 149 rs749871897 0.1560 None gnomAD-4.0.0 1.59243E-06
22329 65 A/E 151 rs2047425169 0.2268 None gnomAD-4.0.0 6.84446E-07
22329 65 A/S 151 rs886055253 0.2268 None gnomAD-2.1.1 4.03E-06
22329 65 A/S 151 rs886055253 0.2268 None gnomAD-4.0.0 6.84437E-07
22329 65 A/T 151 rs886055253 0.2268 None gnomAD-2.1.1 4.03E-06
22329 65 A/T 151 rs886055253 0.2268 None gnomAD-4.0.0 5.4755E-06
22332 68 Y/C 154 rs1481543528 0.1492 None gnomAD-4.0.0 1.59242E-06
22332 68 Y/H 154 None 0.1492 None gnomAD-4.0.0 1.36885E-06
22332 68 Y/S 154 rs1481543528 0.1492 None gnomAD-2.1.1 4.03E-06
22332 68 Y/S 154 rs1481543528 0.1492 None gnomAD-4.0.0 1.59242E-06
22333 69 I/T 155 rs2154176318 0.2633 None gnomAD-4.0.0 1.59245E-06
22333 69 I/V 155 rs753147042 0.2633 None gnomAD-2.1.1 4.03E-06
22333 69 I/V 155 rs753147042 0.2633 None gnomAD-4.0.0 1.59244E-06
22334 70 L/S 156 rs758106978 0.0843 None gnomAD-2.1.1 2.5E-05
22334 70 L/S 156 rs758106978 0.0843 None gnomAD-3.1.2 6.57E-06
22334 70 L/S 156 rs758106978 0.0843 None gnomAD-4.0.0 3.71944E-06
22334 70 L/V 156 rs766103894 0.0843 None gnomAD-2.1.1 4.03E-06
22334 70 L/V 156 rs766103894 0.0843 None gnomAD-3.1.2 6.57E-06
22334 70 L/V 156 rs766103894 0.0843 None gnomAD-4.0.0 4.3393E-06
22335 71 T/I 157 None 0.1664 None gnomAD-4.0.0 1.59251E-06
22336 72 L/P 158 None 0.0886 None gnomAD-4.0.0 3.4222E-06
22337 73 E/K 159 rs764858373 0.4234 None gnomAD-2.1.1 4.03E-06
22338 74 N/K 161 rs761241302 0.1095 None gnomAD-2.1.1 5.01E-05
22338 74 N/K 161 rs761241302 0.1095 None gnomAD-3.1.2 5.26E-05
22338 74 N/K 161 rs761241302 0.1095 None gnomAD-4.0.0 8.18319E-05
22340 76 C/R 163 None 0.2823 None gnomAD-4.0.0 1.20036E-06
22341 77 G/D 164 rs2047417746 0.2532 None gnomAD-3.1.2 6.58E-06
22341 77 G/D 164 rs2047417746 0.2532 None gnomAD-4.0.0 6.57687E-06
22341 77 G/S 164 rs554588683 0.2532 None gnomAD-2.1.1 8.06E-06
22341 77 G/S 164 rs554588683 0.2532 None gnomAD-4.0.0 1.0952E-05
22343 79 K/N 166 None 0.4306 None gnomAD-4.0.0 1.20037E-06
22344 80 E/D 168 rs1022112057 0.4042 None gnomAD-4.0.0 1.59273E-06
22346 82 T/I 171 None 0.4538 None gnomAD-4.0.0 6.84524E-07
22346 82 T/N 171 rs1283475494 0.4538 None gnomAD-2.1.1 8.06E-06
22346 82 T/N 171 rs1283475494 0.4538 None gnomAD-4.0.0 2.05357E-06
22347 83 I/T 172 None 0.1330 None gnomAD-4.0.0 9.60368E-06
22348 84 V/A 173 None 0.3207 None gnomAD-4.0.0 2.05386E-06
22348 84 V/I 173 rs776484491 0.3207 None gnomAD-2.1.1 7.16E-06
22348 84 V/I 173 rs776484491 0.3207 None gnomAD-3.1.2 6.58E-06
22348 84 V/I 173 rs776484491 0.3207 None gnomAD-4.0.0 3.84758E-06
22349 85 V/A 174 None 0.1215 None gnomAD-4.0.0 1.59393E-06
22350 86 K/Q 175 rs1370592733 0.5180 None gnomAD-2.1.1 4.04E-06
22350 86 K/Q 175 rs1370592733 0.5180 None gnomAD-3.1.2 1.32E-05
22350 86 K/Q 175 rs1370592733 0.5180 None gnomAD-4.0.0 3.72098E-06
22351 87 V/L 177 rs764048936 0.1881 None gnomAD-2.1.1 8.08E-06
22351 87 V/L 177 rs764048936 0.1881 None gnomAD-3.1.2 6.58E-06
22351 87 V/L 177 rs764048936 0.1881 None gnomAD-4.0.0 7.44266E-06