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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
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
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 - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - -

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
21177 1 D/E 1 rs879247635 0.4451 None gnomAD-3.1.2 6.58E-06
21177 1 D/E 1 rs879247635 0.4451 None gnomAD-4.0.0 6.57661E-06
21178 2 A/G 2 None 0.5063 None gnomAD-4.0.0 4.84588E-06
21178 2 A/S 2 rs1299782984 0.5063 None gnomAD-2.1.1 4.16E-06
21179 3 S/G 3 rs772529311 0.4236 None gnomAD-2.1.1 1.24E-05
21179 3 S/G 3 rs772529311 0.4236 None gnomAD-3.1.2 6.58E-06
21179 3 S/G 3 rs772529311 0.4236 None gnomAD-4.0.0 6.85293E-06
21180 4 M/K 4 rs774558749 0.1574 None gnomAD-4.0.0 3.2228E-06
21180 4 M/L 4 rs2049352693 0.1574 None gnomAD-4.0.0 7.56728E-06
21180 4 M/T 4 rs774558749 0.1574 None gnomAD-2.1.1 4.12E-06
21182 6 K/E 9 rs565176987 0.8647 None gnomAD-2.1.1 7.27E-06
21182 6 K/E 9 rs565176987 0.8647 None gnomAD-3.1.2 1.97E-05
21182 6 K/E 9 rs565176987 0.8647 None 1000 genomes 1.99681E-04
21182 6 K/E 9 rs565176987 0.8647 None gnomAD-4.0.0 6.46277E-06
21184 8 V/A 13 rs747755332 0.2556 None gnomAD-2.1.1 4.08E-06
21184 8 V/A 13 rs747755332 0.2556 None gnomAD-4.0.0 6.86302E-07
21184 8 V/D 13 None 0.2556 None gnomAD-4.0.0 6.86302E-07
21184 8 V/I 13 rs1290013861 0.2556 None gnomAD-3.1.2 1.32E-05
21184 8 V/I 13 rs1290013861 0.2556 None gnomAD-4.0.0 3.10797E-06
21185 9 I/T 14 rs794729473 0.4991 None gnomAD-4.0.0 2.40065E-06
21185 9 I/V 14 rs1329536424 0.4991 None gnomAD-3.1.2 6.58E-06
21185 9 I/V 14 rs1329536424 0.4991 None gnomAD-4.0.0 6.57601E-06
21186 10 V/M 16 None 0.1811 None gnomAD-4.0.0 6.85778E-07
21187 11 R/G 18 rs368288863 0.5686 None gnomAD-2.1.1 4.05E-06
21187 11 R/G 18 rs368288863 0.5686 None gnomAD-3.1.2 1.32E-05
21187 11 R/G 18 rs368288863 0.5686 None gnomAD-4.0.0 2.48153E-06
21187 11 R/K 18 None 0.5686 None gnomAD-4.0.0 2.73989E-06
21188 12 A/G 23 rs746456662 0.2557 None gnomAD-2.1.1 4.05E-06
21188 12 A/G 23 rs746456662 0.2557 None gnomAD-4.0.0 1.59493E-06
21188 12 A/P 23 None 0.2557 None gnomAD-4.0.0 1.36986E-06
21188 12 A/T 23 None 0.2557 None gnomAD-4.0.0 6.84928E-07
21189 13 G/V 24 None 0.3359 None gnomAD-4.0.0 1.36963E-06
21190 14 C/G 25 rs779738957 0.3074 None gnomAD-2.1.1 8.09E-06
21190 14 C/G 25 rs779738957 0.3074 None gnomAD-4.0.0 3.18873E-06
21191 15 P/A 26 None 0.3759 None gnomAD-4.0.0 3.42362E-06
21191 15 P/R 26 rs1425522000 0.3759 None gnomAD-2.1.1 4.04E-06
21191 15 P/R 26 rs1425522000 0.3759 None gnomAD-4.0.0 1.594E-06
21192 16 I/V 28 rs758357424 0.1239 None gnomAD-2.1.1 4.04E-06
21192 16 I/V 28 rs758357424 0.1239 None gnomAD-3.1.2 1.97E-05
21192 16 I/V 28 rs758357424 0.1239 None gnomAD-4.0.0 1.97371E-05
21193 17 R/C 29 rs376800688 0.6567 None gnomAD-2.1.1 2.86899E-04
21193 17 R/C 29 rs376800688 0.6567 None gnomAD-3.1.2 3.35597E-04
21193 17 R/C 29 rs376800688 0.6567 None gnomAD-4.0.0 4.51428E-04
21193 17 R/H 29 rs372267046 0.6567 None gnomAD-2.1.1 7.89E-05
21193 17 R/H 29 rs372267046 0.6567 None gnomAD-3.1.2 7.24E-05
21193 17 R/H 29 rs372267046 0.6567 None gnomAD-4.0.0 9.1164E-05
21194 18 L/P 30 rs367838375 0.1423 None gnomAD-2.1.1 4.66E-05
21194 18 L/P 30 rs367838375 0.1423 None gnomAD-3.1.2 5.92E-05
21194 18 L/P 30 rs367838375 0.1423 None gnomAD-4.0.0 1.61219E-05
21194 18 L/V 30 None 0.1423 None gnomAD-4.0.0 1.20032E-06
21196 20 A/G 33 rs1460483373 0.2482 None gnomAD-4.0.0 1.59346E-06
21197 21 I/T 34 rs1473107263 0.6315 None gnomAD-3.1.2 6.58E-06
21197 21 I/T 34 rs1473107263 0.6315 None gnomAD-4.0.0 7.69578E-06
21197 21 I/V 34 rs72646855 0.6315 None gnomAD-2.1.1 6.05522E-04
21197 21 I/V 34 rs72646855 0.6315 None gnomAD-3.1.2 5.45866E-04
21197 21 I/V 34 rs72646855 0.6315 None gnomAD-4.0.0 7.41523E-04
21198 22 V/A 35 None 0.1943 None gnomAD-4.0.0 1.59332E-06
21198 22 V/G 35 rs1559553614 0.1943 None gnomAD-2.1.1 4.04E-06
21198 22 V/G 35 rs1559553614 0.1943 None gnomAD-4.0.0 1.59332E-06
21198 22 V/L 35 None 0.1943 None gnomAD-4.0.0 6.84584E-07
21198 22 V/M 35 None 0.1943 None gnomAD-4.0.0 6.84584E-07
21200 24 G/E 40 rs1313160165 0.3689 None gnomAD-2.1.1 4.04E-06
21200 24 G/E 40 rs1313160165 0.3689 None gnomAD-4.0.0 6.37284E-06
21200 24 G/R 40 None 0.3689 None gnomAD-4.0.0 3.1865E-06
21201 25 R/L 41 None 0.9551 None gnomAD-4.0.0 6.84595E-07
21201 25 R/Q 41 rs763273464 0.9551 None gnomAD-2.1.1 2.42E-05
21201 25 R/Q 41 rs763273464 0.9551 None gnomAD-3.1.2 6.58E-06
21201 25 R/Q 41 rs763273464 0.9551 None gnomAD-4.0.0 1.17811E-05
21202 26 P/S 42 rs752725604 0.5863 None gnomAD-2.1.1 4.04E-06
21202 26 P/S 42 rs752725604 0.5863 None gnomAD-4.0.0 2.73823E-06
21202 26 P/T 42 None 0.5863 None gnomAD-4.0.0 6.84558E-07
21203 27 A/D 43 rs544707116 0.5977 None gnomAD-2.1.1 8.07E-06
21203 27 A/D 43 rs544707116 0.5977 None gnomAD-3.1.2 1.97E-05
21203 27 A/D 43 rs544707116 0.5977 None 1000 genomes 5.99042E-04
21203 27 A/D 43 rs544707116 0.5977 None gnomAD-4.0.0 1.31527E-05
21205 29 K/E 45 rs794727409 0.7581 None gnomAD-2.1.1 7.16E-06
21205 29 K/E 45 rs794727409 0.7581 None gnomAD-3.1.2 1.97E-05
21205 29 K/E 45 rs794727409 0.7581 None gnomAD-4.0.0 6.20028E-06
21205 29 K/I 45 rs886042512 0.7581 None gnomAD-2.1.1 1.21E-05
21205 29 K/I 45 rs886042512 0.7581 None gnomAD-4.0.0 4.7792E-06
21205 29 K/N 45 rs771189924 0.7581 None gnomAD-2.1.1 4.03E-06
21205 29 K/N 45 rs771189924 0.7581 None gnomAD-4.0.0 1.59312E-06
21206 30 V/A 46 rs370145029 0.2934 None gnomAD-2.1.1 2.15E-05
21206 30 V/A 46 rs370145029 0.2934 None gnomAD-3.1.2 5.27E-05
21206 30 V/A 46 rs370145029 0.2934 None 1000 genomes 1.99681E-04
21206 30 V/A 46 rs370145029 0.2934 None gnomAD-4.0.0 8.68012E-06
21206 30 V/D 46 None 0.2934 None gnomAD-4.0.0 6.84545E-07
21206 30 V/I 46 None 0.2934 None gnomAD-4.0.0 1.20032E-06
21207 31 T/P 47 None 0.4252 None gnomAD-4.0.0 1.59309E-06
21209 33 R/Q 49 rs148684589 0.4639 None gnomAD-2.1.1 1.00297E-04
21209 33 R/Q 49 rs148684589 0.4639 None gnomAD-3.1.2 1.51344E-04
21209 33 R/Q 49 rs148684589 0.4639 None 1000 genomes 1.99681E-04
21209 33 R/Q 49 rs148684589 0.4639 None gnomAD-4.0.0 7.37808E-05
21211 35 V/A 51 rs397517654 0.4567 None gnomAD-4.0.0 2.05364E-06
21211 35 V/I 51 None 0.4567 None gnomAD-4.0.0 1.20032E-06
21212 36 G/S 52 rs1381842230 0.6573 None gnomAD-4.0.0 1.3691E-06
21213 37 I/M 55 None 0.6439 None gnomAD-4.0.0 1.20032E-06
21213 37 I/T 55 None 0.6439 None gnomAD-4.0.0 1.59312E-06
21213 37 I/V 55 rs2049329163 0.6439 None gnomAD-3.1.2 6.58E-06
21213 37 I/V 55 rs2049329163 0.6439 None gnomAD-4.0.0 6.57834E-06
21214 38 D/A 56 rs779686062 1.0889 None gnomAD-2.1.1 1.21E-05
21214 38 D/A 56 rs779686062 1.0889 None gnomAD-4.0.0 1.2322E-05
21214 38 D/G 56 None 1.0889 None gnomAD-4.0.0 6.84554E-07
21214 38 D/N 56 rs746677565 1.0889 None gnomAD-2.1.1 4.03E-06
21216 40 V/M 59 rs542681131 0.7818 None gnomAD-2.1.1 2.82E-05
21216 40 V/M 59 rs542681131 0.7818 None gnomAD-3.1.2 3.29E-05
21216 40 V/M 59 rs542681131 0.7818 None 1000 genomes 1.99681E-04
21216 40 V/M 59 rs542681131 0.7818 None gnomAD-4.0.0 1.98398E-05
21217 41 V/A 69 rs1351844757 0.2635 None gnomAD-2.1.1 3.19E-05
21217 41 V/A 69 rs1351844757 0.2635 None gnomAD-3.1.2 1.32E-05
21217 41 V/A 69 rs1351844757 0.2635 None gnomAD-4.0.0 3.84796E-06
21217 41 V/I 69 rs1214985099 0.2635 None gnomAD-2.1.1 4.03E-06
21217 41 V/I 69 rs1214985099 0.2635 None gnomAD-4.0.0 1.5932E-06
21218 42 R/G 70 rs778966200 0.9072 None gnomAD-2.1.1 4.03E-06
21218 42 R/G 70 rs778966200 0.9072 None gnomAD-4.0.0 2.05372E-06
21220 44 G/E 102 rs757154541 0.2142 None gnomAD-2.1.1 4.04E-06
21221 45 Q/H 122 None 0.7101 None gnomAD-4.0.0 1.59339E-06
21221 45 Q/K 122 rs2049322891 0.7101 None gnomAD-4.0.0 1.5935E-06
21222 46 V/A 123 rs183595734 0.3699 None gnomAD-2.1.1 1.07E-05
21222 46 V/A 123 rs183595734 0.3699 None gnomAD-3.1.2 1.97E-05
21222 46 V/A 123 rs183595734 0.3699 None 1000 genomes 1.99681E-04
21222 46 V/A 123 rs183595734 0.3699 None gnomAD-4.0.0 7.44027E-06
21222 46 V/G 123 rs183595734 0.3699 None gnomAD-3.1.2 6.58E-06
21222 46 V/G 123 rs183595734 0.3699 None gnomAD-4.0.0 2.48027E-06
21223 47 D/G 125 None 0.5211 None gnomAD-4.0.0 1.20032E-06
21223 47 D/H 125 rs753562502 0.5211 None gnomAD-2.1.1 7.17E-06
21223 47 D/H 125 rs753562502 0.5211 None gnomAD-3.1.2 6.58E-06
21223 47 D/H 125 rs753562502 0.5211 None gnomAD-4.0.0 2.48044E-06
21223 47 D/N 125 None 0.5211 None gnomAD-4.0.0 2.05389E-06
21225 49 V/A 130 rs1396646735 0.5050 None gnomAD-2.1.1 4.04E-06
21225 49 V/A 130 rs1396646735 0.5050 None gnomAD-4.0.0 4.10775E-06
21225 49 V/I 130 rs777568221 0.5050 None gnomAD-2.1.1 8.07E-06
21225 49 V/I 130 rs777568221 0.5050 None gnomAD-4.0.0 3.18719E-06
21226 50 D/G 131 rs879061715 0.9214 None gnomAD-4.0.0 2.40064E-06
21227 51 T/A 134 rs752958666 0.4926 None gnomAD-2.1.1 4.04E-06
21227 51 T/A 134 rs752958666 0.4926 None gnomAD-3.1.2 1.32E-05
21227 51 T/A 134 rs752958666 0.4926 None gnomAD-4.0.0 4.34069E-06
21227 51 T/P 134 None 0.4926 None gnomAD-4.0.0 6.84621E-07
21227 51 T/S 134 rs752958666 0.4926 None gnomAD-3.1.2 6.58E-06
21227 51 T/S 134 rs752958666 0.4926 None gnomAD-4.0.0 6.57964E-06
21228 52 M/K 135 None 0.3487 None gnomAD-4.0.0 6.84639E-07
21228 52 M/T 135 rs1397983700 0.3487 None gnomAD-2.1.1 4.04E-06
21228 52 M/T 135 rs1397983700 0.3487 None gnomAD-4.0.0 6.84639E-07
21228 52 M/V 135 None 0.3487 None gnomAD-4.0.0 1.36927E-06
21229 53 A/V 136 rs1209410552 0.0999 None gnomAD-3.1.2 6.58E-06
21229 53 A/V 136 rs1209410552 0.0999 None gnomAD-4.0.0 1.02638E-05
21232 56 V/I 139 rs767582181 0.2485 None gnomAD-2.1.1 4.04E-06
21232 56 V/I 139 rs767582181 0.2485 None gnomAD-4.0.0 6.84705E-07
21232 56 V/L 139 None 0.2485 None gnomAD-4.0.0 6.84705E-07
21233 57 I/M 140 None 0.1134 None gnomAD-4.0.0 6.84706E-07
21233 57 I/T 140 None 0.1134 None gnomAD-4.0.0 6.84678E-07
21234 58 P/L 141 None 0.4191 None gnomAD-4.0.0 1.59405E-06
21234 58 P/S 141 rs1335943731 0.4191 None gnomAD-2.1.1 3.19E-05
21234 58 P/S 141 rs1335943731 0.4191 None gnomAD-3.1.2 6.58E-06
21234 58 P/S 141 rs1335943731 0.4191 None gnomAD-4.0.0 3.04544E-06
21235 59 N/D 143 rs786205305 0.7483 None gnomAD-2.1.1 4.04E-06
21235 59 N/D 143 rs786205305 0.7483 None gnomAD-4.0.0 1.59381E-06
21235 59 N/S 143 rs751607765 0.7483 None gnomAD-2.1.1 2.15E-05
21235 59 N/S 143 rs751607765 0.7483 None gnomAD-3.1.2 3.95E-05
21235 59 N/S 143 rs751607765 0.7483 None gnomAD-4.0.0 2.10844E-05
21237 61 T/A 145 rs766847414 0.3407 None gnomAD-2.1.1 3.19E-05
21237 61 T/A 145 rs766847414 0.3407 None gnomAD-3.1.2 1.32E-05
21237 61 T/A 145 rs766847414 0.3407 None gnomAD-4.0.0 4.34125E-06
21237 61 T/I 145 None 0.3407 None gnomAD-4.0.0 1.20033E-06
21238 62 R/C 146 rs190432620 0.3152 None gnomAD-2.1.1 2.02E-05
21238 62 R/C 146 rs190432620 0.3152 None gnomAD-3.1.2 2.63E-05
21238 62 R/C 146 rs190432620 0.3152 None 1000 genomes 1.99681E-04
21238 62 R/C 146 rs190432620 0.3152 None gnomAD-4.0.0 1.11632E-05
21238 62 R/H 146 rs544396866 0.3152 None gnomAD-2.1.1 1.79E-05
21238 62 R/H 146 rs544396866 0.3152 None gnomAD-3.1.2 2.63E-05
21238 62 R/H 146 rs544396866 0.3152 None 1000 genomes 1.99681E-04
21238 62 R/H 146 rs544396866 0.3152 None gnomAD-4.0.0 1.17827E-05
21238 62 R/L 146 rs544396866 0.3152 None gnomAD-2.1.1 4.04E-06
21238 62 R/L 146 rs544396866 0.3152 None gnomAD-4.0.0 6.84728E-07
21239 63 D/E 148 None 0.5460 None gnomAD-4.0.0 1.59406E-06
21240 64 D/N 149 rs1031557327 0.1928 None gnomAD-3.1.2 6.58E-06
21240 64 D/N 149 rs1031557327 0.1928 None gnomAD-4.0.0 2.56637E-06
21246 70 L/F 156 rs2049306666 0.1337 None gnomAD-3.1.2 6.58E-06
21246 70 L/F 156 rs2049306666 0.1337 None gnomAD-4.0.0 6.57903E-06
21246 70 L/V 156 None 0.1337 None gnomAD-4.0.0 1.59435E-06
21247 71 T/A 157 None 0.1672 None gnomAD-4.0.0 1.59453E-06
21248 72 L/F 158 rs771468174 0.2078 None gnomAD-2.1.1 4.05E-06
21248 72 L/F 158 rs771468174 0.2078 None gnomAD-4.0.0 6.16354E-06
21248 72 L/P 158 rs745323281 0.2078 None gnomAD-2.1.1 3.24E-05
21248 72 L/P 158 rs745323281 0.2078 None gnomAD-3.1.2 1.32E-05
21248 72 L/P 158 rs745323281 0.2078 None gnomAD-4.0.0 2.10913E-05
21249 73 V/L 159 None 0.3632 None gnomAD-4.0.0 1.36984E-06
21249 73 V/M 159 None 0.3632 None gnomAD-4.0.0 3.4246E-06
21250 74 N/K 161 rs773738001 0.2013 None gnomAD-2.1.1 8.11E-06
21250 74 N/K 161 rs773738001 0.2013 None gnomAD-4.0.0 3.19096E-06
21251 75 P/A 162 None 0.7214 None gnomAD-4.0.0 6.85253E-07
21251 75 P/S 162 None 0.7214 None gnomAD-4.0.0 4.11152E-06
21251 75 P/T 162 None 0.7214 None gnomAD-4.0.0 6.85253E-07
21252 76 A/P 163 rs1414305945 0.7218 None gnomAD-2.1.1 3.19E-05
21252 76 A/P 163 rs1414305945 0.7218 None gnomAD-3.1.2 6.58E-06
21252 76 A/P 163 rs1414305945 0.7218 None gnomAD-4.0.0 6.58085E-06
21253 77 G/V 164 rs770861395 0.3826 None gnomAD-2.1.1 3.19E-05
21253 77 G/V 164 rs770861395 0.3826 None gnomAD-3.1.2 6.58E-06
21253 77 G/V 164 rs770861395 0.3826 None gnomAD-4.0.0 6.58033E-06
21254 78 E/K 165 None 0.6297 None gnomAD-4.0.0 1.20034E-06
21256 80 A/T 168 rs1277491841 0.3631 None gnomAD-2.1.1 4.08E-06
21256 80 A/T 168 rs1277491841 0.3631 None gnomAD-4.0.0 1.6E-06
21259 83 V/I 172 rs371286595 0.2150 None gnomAD-2.1.1 8.34E-05
21259 83 V/I 172 rs371286595 0.2150 None gnomAD-3.1.2 1.11866E-04
21259 83 V/I 172 rs371286595 0.2150 None gnomAD-4.0.0 3.17018E-05
21261 85 V/I 174 None 0.1252 None gnomAD-4.0.0 3.20566E-06
21262 86 R/G 175 None 0.5260 None gnomAD-4.0.0 1.60277E-06
21262 86 R/T 175 rs1342165359 0.5260 None gnomAD-2.1.1 4.09E-06
21262 86 R/T 175 rs1342165359 0.5260 None gnomAD-4.0.0 1.60321E-06
21263 87 V/G 177 None 0.1021 None gnomAD-4.0.0 1.60281E-06
21263 87 V/I 177 rs1298535121 0.1021 None gnomAD-2.1.1 4.09E-06
21263 87 V/I 177 rs1298535121 0.1021 None gnomAD-4.0.0 3.20539E-06