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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
14232 2 Y/C 2 rs1200157031 0.5004 None gnomAD-2.1.1 8.12E-06
14232 2 Y/C 2 rs1200157031 0.5004 None gnomAD-4.0.0 3.18758E-06
14234 4 T/I 4 None 0.3150 None gnomAD-4.0.0 1.20033E-06
14238 8 H/Q 9 rs1438979717 0.7370 None gnomAD-3.1.2 6.57E-06
14238 8 H/Q 9 rs1438979717 0.7370 None gnomAD-4.0.0 2.73843E-06
14239 9 D/N 11 rs1050740085 0.5433 None gnomAD-4.0.0 8.40225E-06
14242 12 A/E 16 None 0.1537 None gnomAD-4.0.0 1.36917E-06
14242 12 A/G 16 rs769564228 0.1537 None gnomAD-2.1.1 7.18E-06
14242 12 A/G 16 rs769564228 0.1537 None gnomAD-3.1.2 6.58E-06
14242 12 A/G 16 rs769564228 0.1537 None gnomAD-4.0.0 3.10017E-06
14242 12 A/V 16 rs769564228 0.1537 None gnomAD-2.1.1 1.08E-05
14242 12 A/V 16 rs769564228 0.1537 None gnomAD-3.1.2 1.32E-05
14242 12 A/V 16 rs769564228 0.1537 None gnomAD-4.0.0 5.58031E-06
14243 13 V/E 18 None 0.2991 None gnomAD-4.0.0 1.20032E-06
14246 16 D/E 25 None 0.3846 None gnomAD-4.0.0 1.36946E-06
14247 17 E/D 26 rs1017956154 0.3982 None gnomAD-4.0.0 6.84493E-07
14252 22 C/G 33 rs1372237054 0.0744 None gnomAD-2.1.1 4.04E-06
14252 22 C/G 33 rs1372237054 0.0744 None gnomAD-3.1.2 1.31E-05
14252 22 C/G 33 rs1372237054 0.0744 None gnomAD-4.0.0 5.57904E-06
14253 23 E/Q 34 rs1276212237 0.2377 None gnomAD-3.1.2 6.57E-06
14253 23 E/Q 34 rs1276212237 0.2377 None gnomAD-4.0.0 2.56379E-06
14254 24 V/E 35 rs1342186371 0.0961 None gnomAD-4.0.0 1.20032E-06
14255 25 S/N 38 rs368433387 0.2155 None gnomAD-2.1.1 4.04E-06
14255 25 S/N 38 rs368433387 0.2155 None gnomAD-3.1.2 1.97E-05
14255 25 S/N 38 rs368433387 0.2155 None 1000 genomes 1.99681E-04
14255 25 S/N 38 rs368433387 0.2155 None gnomAD-4.0.0 5.07429E-06
14256 26 K/Q 40 None 0.4638 None gnomAD-4.0.0 8.21284E-06
14256 26 K/R 40 rs768083088 0.4638 None gnomAD-2.1.1 4.03E-06
14256 26 K/R 40 rs768083088 0.4638 None gnomAD-3.1.2 1.31E-05
14256 26 K/R 40 rs768083088 0.4638 None gnomAD-4.0.0 3.84531E-06
14257 27 D/N 43 rs746571349 0.7666 None gnomAD-2.1.1 4.03E-06
14257 27 D/N 43 rs746571349 0.7666 None gnomAD-3.1.2 1.31E-05
14257 27 D/N 43 rs746571349 0.7666 None gnomAD-4.0.0 6.4092E-06
14259 29 P/S 45 rs1466149919 0.7631 None gnomAD-2.1.1 4.03E-06
14259 29 P/S 45 rs1466149919 0.7631 None gnomAD-4.0.0 1.59234E-06
14261 31 K/R 47 None 0.4835 None gnomAD-4.0.0 1.5923E-06
14265 35 D/G 51 rs1009314740 0.5657 None gnomAD-2.1.1 3.19E-05
14265 35 D/G 51 rs1009314740 0.5657 None gnomAD-3.1.2 1.97E-05
14265 35 D/G 51 rs1009314740 0.5657 None gnomAD-4.0.0 3.0992E-06
14265 35 D/N 51 rs758416170 0.5657 None gnomAD-2.1.1 4.03E-06
14265 35 D/Y 51 rs758416170 0.5657 None gnomAD-2.1.1 4.03E-06
14265 35 D/Y 51 rs758416170 0.5657 None gnomAD-4.0.0 1.5922E-06
14266 36 G/D 52 None 0.4514 None gnomAD-4.0.0 1.36876E-06
14266 36 G/S 52 rs896263032 0.4514 None gnomAD-3.1.2 6.57E-06
14266 36 G/S 52 rs896263032 0.4514 None gnomAD-4.0.0 2.56364E-06
14268 38 E/A 56 None 0.3939 None gnomAD-4.0.0 6.8438E-07
14268 38 E/Q 56 None 0.3939 None gnomAD-4.0.0 2.05315E-06
14268 38 E/V 56 None 0.3939 None gnomAD-4.0.0 6.8438E-07
14269 39 I/M 58 rs778681091 0.1050 None gnomAD-4.0.0 1.59212E-06
14269 39 I/V 58 rs941635511 0.1050 None gnomAD-4.0.0 4.7906E-06
14270 40 V/F 59 rs1187293520 0.6176 None gnomAD-2.1.1 4.03E-06
14270 40 V/F 59 rs1187293520 0.6176 None gnomAD-4.0.0 1.36875E-06
14270 40 V/I 59 None 0.6176 None gnomAD-4.0.0 6.84376E-07
14271 41 P/L 70 None 0.5665 None gnomAD-4.0.0 1.20032E-06
14273 43 P/S 111 rs1440872005 0.8565 None gnomAD-2.1.1 4.03E-06
14273 43 P/S 111 rs1440872005 0.8565 None gnomAD-4.0.0 1.59217E-06
14274 44 K/N 115 rs2060064294 0.1430 None gnomAD-3.1.2 6.57E-06
14274 44 K/N 115 rs2060064294 0.1430 None gnomAD-4.0.0 6.57384E-06
14276 46 S/A 122 None 0.3245 None gnomAD-4.0.0 4.80129E-06
14276 46 S/F 122 rs2060063750 0.3245 None gnomAD-4.0.0 1.59218E-06
14277 47 I/F 123 rs397517568 0.2700 None gnomAD-2.1.1 8.05E-06
14277 47 I/F 123 rs397517568 0.2700 None gnomAD-4.0.0 7.52811E-06
14278 48 K/N 125 rs754085836 0.6927 None gnomAD-3.1.2 1.97E-05
14278 48 K/N 125 rs754085836 0.6927 None gnomAD-4.0.0 2.54138E-05
14278 48 K/Q 125 rs1167849818 0.6927 None gnomAD-3.1.2 6.57E-06
14278 48 K/Q 125 rs1167849818 0.6927 None gnomAD-4.0.0 6.57324E-06
14278 48 K/T 125 None 0.6927 None gnomAD-4.0.0 9.60257E-06
14280 50 D/E 130 rs760643071 0.7558 None gnomAD-2.1.1 1.07E-05
14280 50 D/E 130 rs760643071 0.7558 None gnomAD-3.1.2 1.31E-05
14280 50 D/E 130 rs760643071 0.7558 None gnomAD-4.0.0 1.59217E-06
14280 50 D/G 130 rs181902304 0.7558 None gnomAD-2.1.1 9.29E-05
14280 50 D/G 130 rs181902304 0.7558 None gnomAD-3.1.2 7.23E-05
14280 50 D/G 130 rs181902304 0.7558 None gnomAD-4.0.0 5.45471E-05
14280 50 D/V 130 rs181902304 0.7558 None gnomAD-3.1.2 6.57E-06
14280 50 D/V 130 rs181902304 0.7558 None 1000 genomes 1.99681E-04
14280 50 D/V 130 rs181902304 0.7558 None gnomAD-4.0.0 6.56892E-06
14282 52 L/V 134 None 0.3989 None gnomAD-4.0.0 3.1844E-06
14283 53 R/C 135 rs199684560 0.5163 None gnomAD-2.1.1 6.79E-05
14283 53 R/C 135 rs199684560 0.5163 None gnomAD-3.1.2 4.6E-05
14283 53 R/C 135 rs199684560 0.5163 None 1000 genomes 1.99681E-04
14283 53 R/C 135 rs199684560 0.5163 None gnomAD-4.0.0 5.20691E-05
14283 53 R/H 135 rs767899169 0.5163 None gnomAD-2.1.1 3.62E-05
14283 53 R/P 135 None 0.5163 None gnomAD-4.0.0 6.84398E-07
14283 53 R/S 135 None 0.5163 None gnomAD-4.0.0 6.84414E-07
14284 54 R/C 136 rs760157467 0.1153 None gnomAD-2.1.1 1.61E-05
14284 54 R/C 136 rs760157467 0.1153 None gnomAD-4.0.0 6.84399E-06
14284 54 R/H 136 rs368572799 0.1153 None gnomAD-2.1.1 3.93E-05
14284 54 R/H 136 rs368572799 0.1153 None gnomAD-3.1.2 7.23E-05
14284 54 R/H 136 rs368572799 0.1153 None gnomAD-4.0.0 3.22356E-05
14284 54 R/L 136 rs368572799 0.1153 None gnomAD-2.1.1 3.19E-05
14284 54 R/L 136 rs368572799 0.1153 None gnomAD-3.1.2 6.58E-06
14284 54 R/L 136 rs368572799 0.1153 None gnomAD-4.0.0 1.23983E-06
14285 55 I/F 137 None 0.1886 None gnomAD-4.0.0 1.59229E-06
14285 55 I/M 137 rs761517606 0.1886 None gnomAD-4.0.0 1.3688E-06
14285 55 I/N 137 None 0.1886 None gnomAD-4.0.0 1.36879E-06
14285 55 I/V 137 rs771436214 0.1886 None gnomAD-2.1.1 1.21E-05
14285 55 I/V 137 rs771436214 0.1886 None gnomAD-4.0.0 4.77686E-06
14289 59 K/E 141 rs1387348110 0.5149 None gnomAD-2.1.1 4.03E-06
14289 59 K/E 141 rs1387348110 0.5149 None gnomAD-3.1.2 6.57E-06
14289 59 K/E 141 rs1387348110 0.5149 None gnomAD-4.0.0 5.12718E-06
14291 61 A/V 144 rs746486506 0.0866 None gnomAD-2.1.1 1.21E-05
14291 61 A/V 144 rs746486506 0.0866 None gnomAD-3.1.2 6.58E-06
14291 61 A/V 144 rs746486506 0.0866 None gnomAD-4.0.0 5.57948E-06
14293 63 L/I 146 None 0.5913 None gnomAD-4.0.0 1.59237E-06
14294 64 K/R 148 None 0.8260 None gnomAD-4.0.0 3.18461E-06
14295 65 D/G 149 None 0.1263 None gnomAD-4.0.0 1.59229E-06
14295 65 D/H 149 rs1162989897 0.1263 None gnomAD-2.1.1 4.02E-06
14295 65 D/H 149 rs1162989897 0.1263 None gnomAD-4.0.0 1.59232E-06
14296 66 K/E 151 rs771834069 0.6214 None gnomAD-2.1.1 8.05E-06
14296 66 K/E 151 rs771834069 0.6214 None gnomAD-4.0.0 3.18462E-06
14296 66 K/N 151 rs1272371985 0.6214 None gnomAD-3.1.2 1.31E-05
14296 66 K/N 151 rs1272371985 0.6214 None gnomAD-4.0.0 2.47947E-06
14297 67 G/D 152 None 0.1550 None gnomAD-4.0.0 6.84407E-07
14298 68 E/K 153 rs778634417 0.3676 None gnomAD-2.1.1 1.61E-05
14298 68 E/K 153 rs778634417 0.3676 None gnomAD-3.1.2 1.97E-05
14298 68 E/K 153 rs778634417 0.3676 None gnomAD-4.0.0 1.05379E-05
14300 70 V/L 155 rs757079194 0.1785 None gnomAD-2.1.1 4.02E-06
14300 70 V/L 155 rs757079194 0.1785 None gnomAD-4.0.0 1.59229E-06
14301 71 C/S 156 None 0.0477 None gnomAD-4.0.0 1.36882E-06
14301 71 C/Y 156 rs777838603 0.0477 None gnomAD-2.1.1 4.02E-06
14302 72 D/G 157 None 0.2071 None gnomAD-4.0.0 1.20032E-06
14302 72 D/N 157 None 0.2071 None gnomAD-4.0.0 1.59235E-06
14304 74 G/D 159 None 0.4990 None gnomAD-4.0.0 1.20032E-06
14305 75 T/I 161 None 0.6332 None gnomAD-4.0.0 2.40064E-06
14306 76 D/E 162 rs537375897 0.2320 None gnomAD-2.1.1 8.04E-06
14306 76 D/E 162 rs537375897 0.2320 None gnomAD-4.0.0 2.73759E-06
14307 77 K/T 163 None 0.4329 None gnomAD-4.0.0 1.20032E-06
14308 78 T/I 169 None 0.0836 None gnomAD-4.0.0 3.60097E-06
14309 79 K/E 171 rs908530219 0.5406 None gnomAD-2.1.1 4.02E-06
14309 79 K/E 171 rs908530219 0.5406 None gnomAD-4.0.0 7.9614E-06
14309 79 K/R 171 None 0.5406 None gnomAD-4.0.0 1.20032E-06
14311 81 N/D 173 rs767640666 0.4618 None gnomAD-2.1.1 4.02E-06
14311 81 N/D 173 rs767640666 0.4618 None gnomAD-3.1.2 6.57E-06
14311 81 N/D 173 rs767640666 0.4618 None gnomAD-4.0.0 4.95874E-06
14311 81 N/H 173 rs767640666 0.4618 None gnomAD-4.0.0 6.84396E-07
14311 81 N/K 173 None 0.4618 None gnomAD-4.0.0 6.84396E-07
14312 82 V/I 174 rs794729429 0.1021 None gnomAD-2.1.1 4.02E-06
14312 82 V/I 174 rs794729429 0.1021 None gnomAD-3.1.2 6.57E-06
14312 82 V/I 174 rs794729429 0.1021 None gnomAD-4.0.0 1.11575E-05
14313 83 T/A 175 rs752143463 0.3719 None gnomAD-2.1.1 4.02E-06
14313 83 T/A 175 rs752143463 0.3719 None gnomAD-3.1.2 6.57E-06
14313 83 T/A 175 rs752143463 0.3719 None gnomAD-4.0.0 3.84533E-06
14313 83 T/S 175 None 0.3719 None gnomAD-4.0.0 1.20032E-06
14314 84 V/A 176 rs1317914021 0.1469 None gnomAD-2.1.1 4.02E-06
14314 84 V/A 176 rs1317914021 0.1469 None gnomAD-3.1.2 6.57E-06
14314 84 V/A 176 rs1317914021 0.1469 None gnomAD-4.0.0 1.85958E-06
14314 84 V/I 176 rs376881525 0.1469 None gnomAD-2.1.1 2.41E-05
14314 84 V/I 176 rs376881525 0.1469 None gnomAD-3.1.2 1.31E-05
14314 84 V/I 176 rs376881525 0.1469 None gnomAD-4.0.0 3.96707E-05
14315 85 E/Q 177 None 0.6120 None gnomAD-4.0.0 1.59236E-06
14316 86 A/S 178 None 0.5826 None gnomAD-4.0.0 3.42206E-06
14316 86 A/T 178 rs763386894 0.5826 None gnomAD-2.1.1 4.02E-06
14316 86 A/T 178 rs763386894 0.5826 None gnomAD-4.0.0 2.05323E-06