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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
31218 1 T/A 1 None 1.4918 None gnomAD-4.0.0 1.5917E-06
31219 2 G/R 2 rs2154147060 0.7226 None gnomAD-4.0.0 2.0529E-06
31221 4 T/N 4 None 0.7864 None gnomAD-4.0.0 2.05282E-06
31222 5 N/H 5 rs760845662 0.8129 None gnomAD-2.1.1 4.02E-06
31222 5 N/H 5 rs760845662 0.8129 None gnomAD-3.1.2 6.57E-06
31222 5 N/H 5 rs760845662 0.8129 None gnomAD-4.0.0 3.71841E-06
31222 5 N/S 5 rs1559164640 0.8129 None gnomAD-4.0.0 3.42129E-06
31222 5 N/Y 5 None 0.8129 None gnomAD-4.0.0 6.8426E-07
31224 7 L/P 8 None 0.4307 None gnomAD-4.0.0 1.20032E-06
31225 8 I/T 13 rs727505175 0.1989 None gnomAD-2.1.1 1.21E-05
31225 8 I/T 13 rs727505175 0.1989 None gnomAD-3.1.2 3.29E-05
31225 8 I/T 13 rs727505175 0.1989 None gnomAD-4.0.0 5.32957E-05
31225 8 I/V 13 rs529500497 0.1989 None gnomAD-2.1.1 1.21E-05
31225 8 I/V 13 rs529500497 0.1989 None gnomAD-3.1.2 1.97E-05
31225 8 I/V 13 rs529500497 0.1989 None 1000 genomes 1.99681E-04
31225 8 I/V 13 rs529500497 0.1989 None gnomAD-4.0.0 4.95732E-06
31228 11 K/R 18 rs368714667 0.7116 None gnomAD-2.1.1 4.02E-06
31228 11 K/R 18 rs368714667 0.7116 None gnomAD-3.1.2 1.31E-05
31228 11 K/R 18 rs368714667 0.7116 None gnomAD-4.0.0 3.40838E-05
31231 14 S/N 25 rs1060500565 0.2778 None gnomAD-4.0.0 1.59123E-06
31233 16 F/L 28 None 0.1721 None gnomAD-4.0.0 3.60097E-06
31234 17 T/I 29 rs548911604 0.3649 None gnomAD-4.0.0 4.10517E-06
31235 18 I/F 30 rs373782488 0.1130 None gnomAD-2.1.1 4.02E-06
31235 18 I/M 30 rs1697879569 0.1130 None gnomAD-3.1.2 6.57E-06
31235 18 I/M 30 rs1697879569 0.1130 None gnomAD-4.0.0 3.09843E-06
31235 18 I/N 30 None 0.1130 None gnomAD-4.0.0 6.84191E-07
31235 18 I/T 30 rs1246425366 0.1130 None gnomAD-2.1.1 4.02E-06
31235 18 I/T 30 rs1246425366 0.1130 None gnomAD-4.0.0 7.5261E-06
31236 19 D/E 31 rs560835240 0.4615 None gnomAD-2.1.1 4.02E-06
31236 19 D/E 31 rs560835240 0.4615 None gnomAD-4.0.0 6.84202E-07
31236 19 D/N 31 rs1697878797 0.4615 None gnomAD-3.1.2 6.58E-06
31236 19 D/N 31 rs1697878797 0.4615 None gnomAD-4.0.0 6.57523E-06
31237 20 V/A 33 None 0.2493 None gnomAD-4.0.0 1.59117E-06
31237 20 V/I 33 rs751307668 0.2493 None gnomAD-2.1.1 2.01E-05
31237 20 V/I 33 rs751307668 0.2493 None gnomAD-3.1.2 1.32E-05
31237 20 V/I 33 rs751307668 0.2493 None gnomAD-4.0.0 2.04505E-05
31237 20 V/L 33 rs751307668 0.2493 None gnomAD-2.1.1 4.02E-06
31237 20 V/L 33 rs751307668 0.2493 None gnomAD-4.0.0 6.84194E-07
31238 21 P/A 34 rs779727282 0.5921 None gnomAD-2.1.1 3.22E-05
31238 21 P/A 34 rs779727282 0.5921 None gnomAD-4.0.0 1.43681E-05
31238 21 P/L 34 None 0.5921 None gnomAD-4.0.0 1.36839E-06
31238 21 P/Q 34 None 0.5921 None gnomAD-4.0.0 6.84195E-07
31239 22 I/N 35 None 0.1887 None gnomAD-4.0.0 1.36838E-06
31239 22 I/V 35 None 0.1887 None gnomAD-4.0.0 2.40065E-06
31240 23 S/G 38 rs757914126 0.8926 None gnomAD-2.1.1 4.02E-06
31240 23 S/G 38 rs757914126 0.8926 None gnomAD-4.0.0 1.59116E-06
31240 23 S/R 38 None 0.8926 None gnomAD-4.0.0 1.20032E-06
31242 25 R/C 41 rs563887822 0.9280 None gnomAD-2.1.1 3.21E-05
31242 25 R/C 41 rs563887822 0.9280 None gnomAD-3.1.2 4.6E-05
31242 25 R/C 41 rs563887822 0.9280 None 1000 genomes 1.99681E-04
31242 25 R/C 41 rs563887822 0.9280 None gnomAD-4.0.0 4.2756E-05
31242 25 R/H 41 rs369899675 0.9280 None gnomAD-2.1.1 9.64E-05
31242 25 R/H 41 rs369899675 0.9280 None gnomAD-3.1.2 6.58E-05
31242 25 R/H 41 rs369899675 0.9280 None gnomAD-4.0.0 4.4E-05
31242 25 R/L 41 rs369899675 0.9280 None gnomAD-4.0.0 6.84195E-07
31243 26 P/L 42 None 0.4489 None gnomAD-4.0.0 1.59116E-06
31243 26 P/S 42 rs757118302 0.4489 None gnomAD-2.1.1 2.01E-05
31243 26 P/S 42 rs757118302 0.4489 None gnomAD-3.1.2 6.57E-06
31243 26 P/S 42 rs757118302 0.4489 None gnomAD-4.0.0 8.96783E-06
31244 27 A/G 43 None 0.5768 None gnomAD-4.0.0 6.84191E-07
31244 27 A/S 43 None 0.5768 None gnomAD-4.0.0 1.59115E-06
31244 27 A/T 43 rs753663596 0.5768 None gnomAD-2.1.1 4.02E-06
31244 27 A/T 43 rs753663596 0.5768 None gnomAD-3.1.2 6.57E-06
31244 27 A/T 43 rs753663596 0.5768 None gnomAD-4.0.0 3.84317E-06
31244 27 A/V 43 rs763825977 0.5768 None gnomAD-2.1.1 1.61E-05
31244 27 A/V 43 rs763825977 0.5768 None gnomAD-3.1.2 1.32E-05
31244 27 A/V 43 rs763825977 0.5768 None gnomAD-4.0.0 1.61124E-05
31245 28 P/L 44 rs760438860 0.2664 None gnomAD-2.1.1 2.14E-05
31245 28 P/L 44 rs760438860 0.2664 None gnomAD-3.1.2 2.63E-05
31245 28 P/L 44 rs760438860 0.2664 None gnomAD-4.0.0 3.71826E-06
31245 28 P/R 44 rs760438860 0.2664 None gnomAD-2.1.1 4.02E-06
31245 28 P/R 44 rs760438860 0.2664 None gnomAD-4.0.0 2.05257E-06
31245 28 P/S 44 None 0.2664 None gnomAD-4.0.0 2.05258E-06
31245 28 P/T 44 None 0.2664 None gnomAD-4.0.0 6.84192E-07
31246 29 K/R 45 rs775611779 0.5350 None gnomAD-2.1.1 1.07E-05
31246 29 K/R 45 rs775611779 0.5350 None gnomAD-3.1.2 1.97E-05
31246 29 K/R 45 rs775611779 0.5350 None gnomAD-4.0.0 1.30135E-05
31249 32 W/C 48 None 0.2017 None gnomAD-4.0.0 1.20032E-06
31249 32 W/L 48 None 0.2017 None gnomAD-4.0.0 6.84186E-07
31249 32 W/R 48 None 0.2017 None gnomAD-4.0.0 2.40064E-06
31250 33 K/E 49 rs1559163775 0.2462 None gnomAD-4.0.0 3.18225E-06
31250 33 K/Q 49 None 0.2462 None gnomAD-4.0.0 4.77338E-06
31251 34 L/P 50 None 0.1762 None gnomAD-4.0.0 1.59112E-06
31253 36 E/K 52 rs767771567 0.6283 None gnomAD-2.1.1 4.02E-06
31253 36 E/K 52 rs767771567 0.6283 None gnomAD-4.0.0 3.1823E-06
31254 37 M/I 55 rs1424714918 0.7587 None gnomAD-2.1.1 7.14E-06
31254 37 M/I 55 rs1424714918 0.7587 None gnomAD-3.1.2 6.57E-06
31254 37 M/I 55 rs1424714918 0.7587 None gnomAD-4.0.0 6.57056E-06
31254 37 M/L 55 rs759588322 0.7587 None gnomAD-4.0.0 6.84188E-07
31254 37 M/V 55 rs759588322 0.7587 None gnomAD-2.1.1 4.02E-06
31254 37 M/V 55 rs759588322 0.7587 None gnomAD-4.0.0 2.73675E-06
31255 38 R/G 56 rs1219872044 0.8446 None gnomAD-2.1.1 4.02E-06
31255 38 R/G 56 rs1219872044 0.8446 None gnomAD-3.1.2 6.57E-06
31255 38 R/G 56 rs1219872044 0.8446 None gnomAD-4.0.0 2.56178E-06
31255 38 R/K 56 rs376833905 0.8446 None gnomAD-2.1.1 4.02E-06
31255 38 R/K 56 rs376833905 0.8446 None gnomAD-3.1.2 1.97E-05
31255 38 R/K 56 rs376833905 0.8446 None gnomAD-4.0.0 3.71815E-06
31258 41 E/K 70 rs994627256 0.5879 None gnomAD-4.0.0 1.59112E-06
31259 42 T/A 73 None 0.3748 None gnomAD-4.0.0 1.20032E-06
31261 44 R/Q 115 rs755974993 0.2584 None gnomAD-2.1.1 4.03E-06
31261 44 R/Q 115 rs755974993 0.2584 None gnomAD-4.0.0 4.78932E-06
31262 45 V/E 121 None 0.1875 None gnomAD-4.0.0 3.18217E-06
31262 45 V/G 121 None 0.1875 None gnomAD-4.0.0 1.59108E-06
31263 46 S/C 122 rs1482369519 0.3853 None gnomAD-2.1.1 4.02E-06
31263 46 S/C 122 rs1482369519 0.3853 None gnomAD-4.0.0 4.77328E-06
31264 47 I/T 123 rs773835374 0.2672 None gnomAD-2.1.1 4.02E-06
31264 47 I/T 123 rs773835374 0.2672 None gnomAD-4.0.0 3.18218E-06
31265 48 T/A 125 rs770324266 0.6121 None gnomAD-2.1.1 4.02E-06
31265 48 T/A 125 rs770324266 0.6121 None gnomAD-3.1.2 6.57E-06
31265 48 T/A 125 rs770324266 0.6121 None gnomAD-4.0.0 6.56987E-06
31265 48 T/I 125 rs1697844635 0.6121 None gnomAD-4.0.0 1.59109E-06
31266 49 T/S 127 None 0.4147 None gnomAD-4.0.0 1.59111E-06
31268 51 K/N 131 None 0.9758 None gnomAD-4.0.0 1.20032E-06
31268 51 K/T 131 rs200766837 0.9758 None gnomAD-2.1.1 4.78653E-04
31268 51 K/T 131 rs200766837 0.9758 None gnomAD-3.1.2 1.83995E-04
31268 51 K/T 131 rs200766837 0.9758 IH
Literature None
31268 51 K/T 131 rs200766837 0.9758 None gnomAD-4.0.0 3.15406E-04
31269 52 D/G 134 None 0.3524 None gnomAD-4.0.0 1.59112E-06
31269 52 D/V 134 rs368404585 0.3524 None gnomAD-2.1.1 4.02E-06
31269 52 D/V 134 rs368404585 0.3524 None gnomAD-3.1.2 1.31E-05
31269 52 D/V 134 rs368404585 0.3524 None gnomAD-4.0.0 1.31416E-05
31270 53 R/K 135 rs1280335651 0.4287 None gnomAD-4.0.0 2.40064E-06
31270 53 R/T 135 rs1280335651 0.4287 None gnomAD-3.1.2 6.57E-06
31270 53 R/T 135 rs1280335651 0.4287 None gnomAD-4.0.0 4.05978E-06
31271 54 T/N 136 rs1220633240 0.1089 None gnomAD-2.1.1 4.02E-06
31271 54 T/N 136 rs1220633240 0.1089 None gnomAD-3.1.2 3.94E-05
31271 54 T/N 136 rs1220633240 0.1089 None gnomAD-4.0.0 1.02487E-05
31272 55 T/I 137 rs758010794 0.2365 None gnomAD-2.1.1 3.62E-05
31272 55 T/I 137 rs758010794 0.2365 None gnomAD-3.1.2 1.31E-05
31272 55 T/I 137 rs758010794 0.2365 None gnomAD-4.0.0 2.60262E-05
31273 56 L/Q 138 None 0.0948 None gnomAD-4.0.0 3.60097E-06
31273 56 L/V 138 rs1697833909 0.0948 None gnomAD-4.0.0 3.18224E-06
31274 57 T/N 139 None 0.2818 None gnomAD-4.0.0 1.20032E-06
31275 58 V/A 140 None 0.0996 None gnomAD-4.0.0 1.59111E-06
31275 58 V/I 140 rs1287511397 0.0996 None gnomAD-2.1.1 4.02E-06
31275 58 V/I 140 rs1287511397 0.0996 None gnomAD-4.0.0 1.59114E-06
31275 58 V/L 140 None 0.0996 None gnomAD-4.0.0 1.59114E-06
31279 62 M/I 145 rs577904312 0.3370 None gnomAD-2.1.1 4.02E-06
31279 62 M/I 145 rs577904312 0.3370 None gnomAD-3.1.2 6.57E-06
31279 62 M/I 145 rs577904312 0.3370 None 1000 genomes 1.99681E-04
31279 62 M/I 145 rs577904312 0.3370 None gnomAD-4.0.0 6.56625E-06
31279 62 M/L 145 None 0.3370 None gnomAD-4.0.0 6.84173E-07
31279 62 M/T 145 None 0.3370 None gnomAD-4.0.0 1.59105E-06
31279 62 M/V 145 rs765117891 0.3370 None gnomAD-2.1.1 3.18E-05
31279 62 M/V 145 rs765117891 0.3370 None gnomAD-3.1.2 1.31E-05
31279 62 M/V 145 rs765117891 0.3370 None gnomAD-4.0.0 7.43576E-06
31281 64 G/A 148 None 0.3700 None gnomAD-4.0.0 6.84168E-07
31281 64 G/D 148 None 0.3700 None gnomAD-4.0.0 3.42084E-06
31281 64 G/S 148 rs1352252944 0.3700 None gnomAD-2.1.1 4.02E-06
31281 64 G/S 148 rs1352252944 0.3700 None gnomAD-4.0.0 1.59106E-06
31282 65 D/E 149 rs1697827813 0.1680 None gnomAD-3.1.2 6.57E-06
31282 65 D/E 149 rs1697827813 0.1680 None gnomAD-4.0.0 6.57324E-06
31283 66 S/Y 151 None 0.2541 None gnomAD-4.0.0 1.59103E-06
31284 67 G/E 152 None 0.1881 None gnomAD-4.0.0 1.59103E-06
31284 67 G/R 152 rs1553527764 0.1881 None gnomAD-2.1.1 4.02E-06
31284 67 G/R 152 rs1553527764 0.1881 None gnomAD-4.0.0 6.8417E-07
31287 70 F/S 155 rs374887049 0.2112 None gnomAD-2.1.1 2.5E-05
31287 70 F/S 155 rs374887049 0.2112 None gnomAD-3.1.2 5.26E-05
31287 70 F/S 155 rs374887049 0.2112 None gnomAD-4.0.0 1.05343E-05
31289 72 T/I 157 None 0.2577 None gnomAD-4.0.0 6.84167E-07
31289 72 T/N 157 rs371666313 0.2577 None gnomAD-3.1.2 1.31E-05
31289 72 T/N 157 rs371666313 0.2577 None gnomAD-4.0.0 1.85897E-06
31290 73 L/P 158 rs755965938 0.1793 None gnomAD-2.1.1 4.02E-06
31291 74 E/G 159 rs1471852535 0.4386 None gnomAD-2.1.1 4.02E-06
31291 74 E/K 159 None 0.4386 None gnomAD-4.0.0 1.20032E-06
31292 75 N/D 161 rs767641332 0.1901 None gnomAD-2.1.1 3.21E-05
31292 75 N/D 161 rs767641332 0.1901 None gnomAD-4.0.0 1.16309E-05
31292 75 N/Y 161 None 0.1901 None gnomAD-4.0.0 6.84172E-07
31293 76 T/I 162 None 0.8342 None gnomAD-4.0.0 1.59109E-06
31295 78 G/C 164 rs1235271231 0.3507 None gnomAD-2.1.1 4.02E-06
31295 78 G/C 164 rs1235271231 0.3507 None gnomAD-4.0.0 1.5918E-06
31295 78 G/D 164 rs1211735152 0.3507 None gnomAD-2.1.1 4.02E-06
31295 78 G/D 164 rs1211735152 0.3507 None gnomAD-4.0.0 4.77544E-06
31295 78 G/R 164 rs1235271231 0.3507 None gnomAD-2.1.1 4.02E-06
31295 78 G/R 164 rs1235271231 0.3507 None gnomAD-4.0.0 1.5918E-06
31296 79 V/I 165 rs794729534 0.5144 None gnomAD-2.1.1 1.21E-05
31296 79 V/I 165 rs794729534 0.5144 None gnomAD-3.1.2 2.63E-05
31296 79 V/I 165 rs794729534 0.5144 None gnomAD-4.0.0 1.15327E-05
31298 81 T/A 168 rs1697809647 0.3361 None gnomAD-4.0.0 1.20032E-06
31299 82 F/C 169 rs1321285611 0.5083 None gnomAD-2.1.1 3.19E-05
31299 82 F/L 169 None 0.5083 None gnomAD-4.0.0 1.59105E-06
31300 83 S/G 171 None 0.2575 None gnomAD-4.0.0 1.59106E-06
31301 84 V/F 172 None 0.1698 None gnomAD-4.0.0 6.84168E-07
31301 84 V/I 172 rs67665715 0.1698 None gnomAD-2.1.1 1.1064E-02
31301 84 V/I 172 rs67665715 0.1698 None gnomAD-3.1.2 3.25484E-02
31301 84 V/I 172 rs67665715 0.1698 None 1000 genomes 3.59425E-02
31301 84 V/I 172 rs67665715 0.1698 None gnomAD-4.0.0 6.58297E-03
31303 86 V/A 174 rs1697801738 0.0897 None gnomAD-4.0.0 1.20032E-06
31304 87 V/M 175 rs879165673 0.3088 None gnomAD-2.1.1 3.19E-05
31304 87 V/M 175 rs879165673 0.3088 None gnomAD-3.1.2 6.57E-06
31304 87 V/M 175 rs879165673 0.3088 None gnomAD-4.0.0 2.02989E-06
31305 88 V/I 177 rs763095452 0.1018 None gnomAD-2.1.1 4.02E-06
31305 88 V/I 177 rs763095452 0.1018 None gnomAD-4.0.0 1.59105E-06