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

Map SAVs to Structure

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
34258 1 P/S 1 rs752360286 0.2185 None gnomAD-2.1.1 8.03E-06
34258 1 P/S 1 rs752360286 0.2185 None gnomAD-4.0.0 1.02624E-05
34258 1 P/T 1 rs752360286 0.2185 None gnomAD-2.1.1 4.42E-05
34258 1 P/T 1 rs752360286 0.2185 None gnomAD-3.1.2 4.6E-05
34258 1 P/T 1 rs752360286 0.2185 None gnomAD-4.0.0 3.90374E-05
34259 2 E/K 2 rs1301566986 0.6504 None gnomAD-3.1.2 6.57E-06
34259 2 E/K 2 rs1301566986 0.6504 None gnomAD-4.0.0 1.23928E-06
34259 2 E/Q 2 None 0.6504 None gnomAD-4.0.0 6.84161E-07
34260 3 F/L 3 rs767251580 0.1731 None gnomAD-3.1.2 6.57E-06
34260 3 F/L 3 rs767251580 0.1731 None gnomAD-4.0.0 6.56978E-06
34261 4 T/I 4 None 0.3827 None gnomAD-4.0.0 6.84159E-07
34261 4 T/N 4 rs985229219 0.3827 None gnomAD-2.1.1 8.03E-06
34261 4 T/N 4 rs985229219 0.3827 None gnomAD-3.1.2 6.57E-06
34261 4 T/N 4 rs985229219 0.3827 None gnomAD-4.0.0 1.3632E-05
34261 4 T/P 4 rs759169479 0.3827 None gnomAD-4.0.0 1.09923E-04
34261 4 T/S 4 None 0.3827 None gnomAD-4.0.0 6.84159E-07
34262 5 L/M 5 None 0.6399 None gnomAD-4.0.0 6.8416E-07
34262 5 L/V 5 None 0.6399 None gnomAD-4.0.0 6.8416E-07
34263 6 P/S 7 rs1690264477 0.5496 None gnomAD-3.1.2 6.57E-06
34263 6 P/S 7 rs1690264477 0.5496 None gnomAD-4.0.0 4.05983E-06
34264 7 L/F 8 rs773984912 0.1630 None gnomAD-2.1.1 3.21E-05
34264 7 L/F 8 rs773984912 0.1630 None gnomAD-4.0.0 1.84722E-05
34264 7 L/P 8 None 0.1630 None gnomAD-4.0.0 1.59096E-06
34264 7 L/V 8 None 0.1630 None gnomAD-4.0.0 6.84155E-07
34265 8 Y/C 9 rs1559030437 0.5825 None gnomAD-4.0.0 5.47324E-06
34266 9 N/D 11 rs1167687090 0.5784 None gnomAD-2.1.1 4.01E-06
34266 9 N/D 11 rs1167687090 0.5784 None gnomAD-4.0.0 1.36831E-06
34266 9 N/S 11 None 0.5784 None gnomAD-4.0.0 1.20032E-06
34266 9 N/Y 11 None 0.5784 None gnomAD-4.0.0 2.05246E-06
34267 10 K/E 13 rs1690256257 0.1436 None gnomAD-4.0.0 1.591E-06
34267 10 K/M 13 rs879206062 0.1436 None gnomAD-2.1.1 4.01E-06
34267 10 K/M 13 rs879206062 0.1436 None gnomAD-4.0.0 6.84167E-07
34267 10 K/R 13 rs879206062 0.1436 None gnomAD-4.0.0 2.0525E-06
34269 12 A/G 16 None 0.1757 None gnomAD-4.0.0 1.20032E-06
34269 12 A/P 16 rs1690251007 0.1757 None gnomAD-3.1.2 6.57E-06
34269 12 A/P 16 rs1690251007 0.1757 None gnomAD-4.0.0 6.56961E-06
34270 13 Y/H 18 rs1339846795 0.7226 None gnomAD-2.1.1 3.18E-05
34270 13 Y/H 18 rs1339846795 0.7226 None gnomAD-3.1.2 6.57E-06
34270 13 Y/H 18 rs1339846795 0.7226 None gnomAD-4.0.0 6.57099E-06
34270 13 Y/S 18 rs773071400 0.7226 None gnomAD-2.1.1 8.03E-06
34270 13 Y/S 18 rs773071400 0.7226 None gnomAD-4.0.0 3.18189E-06
34271 14 V/A 23 None 0.4867 None gnomAD-4.0.0 1.59095E-06
34271 14 V/I 23 rs794727542 0.4867 None gnomAD-2.1.1 8.03E-06
34271 14 V/I 23 rs794727542 0.4867 None gnomAD-4.0.0 2.73664E-06
34271 14 V/L 23 rs794727542 0.4867 None gnomAD-2.1.1 8.03E-06
34271 14 V/L 23 rs794727542 0.4867 None gnomAD-4.0.0 2.05248E-06
34272 15 G/R 24 rs794729562 0.3246 None gnomAD-2.1.1 8.03E-06
34272 15 G/R 24 rs794729562 0.3246 None gnomAD-4.0.0 1.36831E-05
34272 15 G/S 24 rs794729562 0.3246 None gnomAD-3.1.2 6.57E-06
34272 15 G/S 24 rs794729562 0.3246 None gnomAD-4.0.0 6.57073E-06
34274 17 N/H 26 rs748399505 0.5986 None gnomAD-2.1.1 2.01E-05
34274 17 N/H 26 rs748399505 0.5986 None gnomAD-4.0.0 1.11369E-05
34275 18 V/I 28 rs879063086 0.1791 None gnomAD-2.1.1 1.61E-05
34275 18 V/I 28 rs879063086 0.1791 None gnomAD-3.1.2 2.63E-05
34275 18 V/I 28 rs879063086 0.1791 None gnomAD-4.0.0 4.33746E-06
34276 19 R/L 29 None 0.5660 None gnomAD-4.0.0 6.84158E-07
34276 19 R/Q 29 rs199932621 0.5660 None gnomAD-2.1.1 3.92E-05
34276 19 R/Q 29 rs199932621 0.5660 None gnomAD-3.1.2 3.29E-05
34276 19 R/Q 29 rs199932621 0.5660 None gnomAD-4.0.0 2.41662E-05
34276 19 R/W 29 rs781432886 0.5660 None gnomAD-2.1.1 3.61E-05
34276 19 R/W 29 rs781432886 0.5660 None gnomAD-3.1.2 1.97E-05
34276 19 R/W 29 rs781432886 0.5660 None gnomAD-4.0.0 1.17735E-05
34278 21 G/R 31 None 0.2699 None gnomAD-4.0.0 1.20032E-06
34278 21 G/V 31 rs3731752 0.2699 None gnomAD-2.1.1 3.93119E-02
34278 21 G/V 31 rs3731752 0.2699 None gnomAD-3.1.2 4.09242E-02
34278 21 G/V 31 rs3731752 0.2699 None 1000 genomes 7.80751E-02
34278 21 G/V 31 rs3731752 0.2699 None gnomAD-4.0.0 2.92833E-02
34279 22 V/I 33 rs779989647 0.1112 None gnomAD-2.1.1 8.03E-06
34279 22 V/I 33 rs779989647 0.1112 None gnomAD-4.0.0 3.42077E-06
34279 22 V/L 33 rs779989647 0.1112 None gnomAD-3.1.2 6.57E-06
34279 22 V/L 33 rs779989647 0.1112 None gnomAD-4.0.0 6.57039E-06
34280 23 T/I 34 rs886042505 0.2380 None gnomAD-2.1.1 8.03E-06
34280 23 T/I 34 rs886042505 0.2380 None gnomAD-3.1.2 6.57E-06
34280 23 T/I 34 rs886042505 0.2380 None gnomAD-4.0.0 3.84252E-06
34281 24 I/L 35 rs758945559 0.1194 None gnomAD-2.1.1 4.01E-06
34281 24 I/L 35 rs758945559 0.1194 None gnomAD-4.0.0 4.78906E-06
34281 24 I/M 35 None 0.1194 None gnomAD-4.0.0 3.60097E-06
34281 24 I/R 35 rs779369864 0.1194 None gnomAD-2.1.1 4.01E-06
34281 24 I/R 35 rs779369864 0.1194 None gnomAD-4.0.0 1.36831E-06
34281 24 I/T 35 rs779369864 0.1194 None gnomAD-2.1.1 3.21E-05
34281 24 I/T 35 rs779369864 0.1194 None gnomAD-3.1.2 1.31E-05
34281 24 I/T 35 rs779369864 0.1194 None gnomAD-4.0.0 1.05337E-05
34281 24 I/V 35 rs758945559 0.1194 None gnomAD-2.1.1 8.03E-06
34281 24 I/V 35 rs758945559 0.1194 None gnomAD-3.1.2 6.57E-06
34281 24 I/V 35 rs758945559 0.1194 None gnomAD-4.0.0 1.85885E-06
34282 25 T/N 38 rs369595031 0.6301 None gnomAD-2.1.1 4.01E-06
34282 25 T/N 38 rs369595031 0.6301 None gnomAD-3.1.2 6.57E-06
34282 25 T/N 38 rs369595031 0.6301 None gnomAD-4.0.0 6.56961E-06
34284 27 H/R 41 rs879025670 0.9728 None gnomAD-4.0.0 1.59098E-06
34285 28 P/A 42 rs794729563 0.3970 None gnomAD-4.0.0 3.42079E-06
34285 28 P/L 42 rs1690211632 0.3970 None gnomAD-3.1.2 6.57E-06
34285 28 P/L 42 rs1690211632 0.3970 None gnomAD-4.0.0 6.57272E-06
34285 28 P/S 42 None 0.3970 None gnomAD-4.0.0 3.42079E-06
34285 28 P/T 42 None 0.3970 None gnomAD-4.0.0 6.84158E-07
34286 29 E/D 43 None 0.7503 None gnomAD-4.0.0 1.20032E-06
34286 29 E/K 43 rs1211102560 0.7503 None gnomAD-4.0.0 1.59097E-06
34286 29 E/Q 43 None 0.7503 None gnomAD-4.0.0 1.59097E-06
34286 29 E/V 43 None 0.7503 None gnomAD-4.0.0 1.59095E-06
34287 30 P/T 44 None 0.1704 None gnomAD-4.0.0 1.20032E-06
34289 32 V/A 46 rs1370660271 0.2297 None gnomAD-2.1.1 4.02E-06
34289 32 V/A 46 rs1370660271 0.2297 None gnomAD-4.0.0 3.18196E-06
34290 33 T/P 47 None 0.3108 None gnomAD-4.0.0 2.40064E-06
34290 33 T/R 47 None 0.3108 None gnomAD-4.0.0 1.20032E-06
34291 34 W/C 48 None 0.1414 None gnomAD-4.0.0 1.59102E-06
34291 34 W/G 48 rs1690204801 0.1414 None gnomAD-4.0.0 3.18196E-06
34292 35 Y/H 49 rs1690203448 0.2625 None gnomAD-3.1.2 6.57E-06
34292 35 Y/H 49 rs1690203448 0.2625 None gnomAD-4.0.0 3.09828E-06
34293 36 K/E 50 rs72629783 0.1611 None gnomAD-2.1.1 1.99709E-04
34293 36 K/E 50 rs72629783 0.1611 None gnomAD-3.1.2 1.51097E-04
34293 36 K/E 50 rs72629783 0.1611 None gnomAD-4.0.0 1.90833E-04
34297 40 K/N 56 rs1019464699 0.4446 None gnomAD-2.1.1 3.18E-05
34297 40 K/N 56 rs1019464699 0.4446 None gnomAD-3.1.2 6.57E-06
34297 40 K/N 56 rs1019464699 0.4446 None gnomAD-4.0.0 2.02984E-06
34300 43 P/L 70 rs186977868 0.5831 None gnomAD-2.1.1 1.21E-05
34300 43 P/L 70 rs186977868 0.5831 None gnomAD-3.1.2 6.57E-06
34300 43 P/L 70 rs186977868 0.5831 None 1000 genomes 1.99681E-04
34300 43 P/L 70 rs186977868 0.5831 None gnomAD-4.0.0 5.12327E-06
34300 43 P/S 70 None 0.5831 None gnomAD-4.0.0 1.20032E-06
34300 43 P/T 70 None 0.5831 None gnomAD-4.0.0 1.20032E-06
34304 47 D/E 113 None 0.6583 None gnomAD-4.0.0 1.20032E-06
34304 47 D/N 113 rs1690185819 0.6583 None gnomAD-3.1.2 6.57E-06
34304 47 D/N 113 rs1690185819 0.6583 None gnomAD-4.0.0 6.57117E-06
34305 48 K/R 114 rs2154135333 0.9859 None gnomAD-4.0.0 1.59102E-06
34307 50 Y/C 121 None 0.2075 None gnomAD-4.0.0 1.20033E-06
34307 50 Y/N 121 rs769306235 0.2075 None gnomAD-2.1.1 1.21E-05
34307 50 Y/N 121 rs769306235 0.2075 None gnomAD-4.0.0 1.84726E-05
34308 51 T/I 122 rs528711725 0.3513 None gnomAD-2.1.1 1.21E-05
34308 51 T/I 122 rs528711725 0.3513 None gnomAD-3.1.2 6.57E-06
34308 51 T/I 122 rs528711725 0.3513 None 1000 genomes 1.99681E-04
34308 51 T/I 122 rs528711725 0.3513 None gnomAD-4.0.0 3.84214E-06
34308 51 T/P 122 rs769739303 0.3513 None gnomAD-2.1.1 1.61E-05
34308 51 T/P 122 rs769739303 0.3513 None gnomAD-4.0.0 1.90927E-05
34309 52 F/S 123 rs776393529 0.4106 None gnomAD-2.1.1 1.07E-05
34309 52 F/S 123 rs776393529 0.4106 None gnomAD-3.1.2 1.97E-05
34309 52 F/S 123 rs776393529 0.4106 None gnomAD-4.0.0 6.40494E-06
34310 53 E/K 125 rs768930172 0.6269 None gnomAD-2.1.1 4.02E-06
34310 53 E/K 125 rs768930172 0.6269 None gnomAD-3.1.2 6.57E-06
34310 53 E/K 125 rs768930172 0.6269 None gnomAD-4.0.0 2.4786E-06
34311 54 S/P 127 rs566139261 0.6622 None gnomAD-2.1.1 4.02E-06
34311 54 S/P 127 rs566139261 0.6622 None gnomAD-3.1.2 6.58E-06
34311 54 S/P 127 rs566139261 0.6622 None 1000 genomes 1.99681E-04
34311 54 S/P 127 rs566139261 0.6622 None gnomAD-4.0.0 6.57177E-06
34314 57 G/A 134 None 0.2133 None gnomAD-4.0.0 1.59101E-06
34314 57 G/R 134 rs772007737 0.2133 None gnomAD-2.1.1 8.04E-06
34314 57 G/V 134 None 0.2133 None gnomAD-4.0.0 1.59101E-06
34315 58 L/I 135 rs1305429779 0.4049 None gnomAD-4.0.0 1.59103E-06
34315 58 L/V 135 rs1305429779 0.4049 None gnomAD-2.1.1 4.02E-06
34315 58 L/V 135 rs1305429779 0.4049 None gnomAD-4.0.0 1.59103E-06
34316 59 Y/C 136 rs1406877841 0.1935 None gnomAD-3.1.2 6.57E-06
34316 59 Y/C 136 rs1406877841 0.1935 None gnomAD-4.0.0 6.56996E-06
34316 59 Y/H 136 None 0.1935 None gnomAD-4.0.0 1.20032E-06
34317 60 Q/R 137 rs745933614 0.2367 None gnomAD-2.1.1 2.01E-05
34317 60 Q/R 137 rs745933614 0.2367 None gnomAD-4.0.0 6.84159E-06
34319 62 T/A 139 rs768829243 0.2116 None gnomAD-2.1.1 1.21E-05
34319 62 T/A 139 rs768829243 0.2116 None gnomAD-3.1.2 6.57E-06
34319 62 T/A 139 rs768829243 0.2116 None gnomAD-4.0.0 8.67492E-06
34319 62 T/I 139 rs549304089 0.2116 None gnomAD-2.1.1 6.03E-05
34319 62 T/I 139 rs549304089 0.2116 None gnomAD-3.1.2 1.31E-05
34319 62 T/I 139 rs549304089 0.2116 None 1000 genomes 1.99681E-04
34319 62 T/I 139 rs549304089 0.2116 None gnomAD-4.0.0 2.23062E-05
34322 65 S/N 143 rs763242057 0.4648 None gnomAD-2.1.1 2.01E-05
34322 65 S/N 143 rs763242057 0.4648 None gnomAD-3.1.2 1.97E-05
34322 65 S/N 143 rs763242057 0.4648 None gnomAD-4.0.0 2.72646E-05
34322 65 S/R 143 None 0.4648 None gnomAD-4.0.0 1.59102E-06
34322 65 S/T 143 rs763242057 0.4648 None gnomAD-2.1.1 4.02E-06
34322 65 S/T 143 rs763242057 0.4648 None gnomAD-4.0.0 6.84165E-07
34323 66 V/G 144 rs1307866503 0.1020 None gnomAD-4.0.0 1.59099E-06
34326 69 D/N 148 rs1227502652 0.5675 None gnomAD-3.1.2 6.57E-06
34326 69 D/N 148 rs1227502652 0.5675 None gnomAD-4.0.0 6.56935E-06
34327 70 D/N 149 None 0.1142 None gnomAD-4.0.0 1.59099E-06
34328 71 D/E 151 rs541125667 0.3470 None gnomAD-2.1.1 4.02E-06
34328 71 D/E 151 rs541125667 0.3470 None gnomAD-4.0.0 2.0525E-06
34329 72 A/D 152 None 0.1049 None gnomAD-4.0.0 6.84159E-07
34329 72 A/T 152 rs749925915 0.1049 None gnomAD-2.1.1 1.43E-05
34329 72 A/T 152 rs749925915 0.1049 None gnomAD-3.1.2 1.31E-05
34329 72 A/T 152 rs749925915 0.1049 None gnomAD-4.0.0 1.23929E-05
34329 72 A/V 152 rs1472884048 0.1049 None gnomAD-2.1.1 4.02E-06
34329 72 A/V 152 rs1472884048 0.1049 None gnomAD-3.1.2 1.97E-05
34329 72 A/V 152 rs1472884048 0.1049 None gnomAD-4.0.0 5.57687E-06
34330 73 E/K 153 None 0.3346 None gnomAD-4.0.0 3.60097E-06
34331 74 Y/C 154 rs765213170 0.1039 None gnomAD-2.1.1 8.03E-06
34331 74 Y/C 154 rs765213170 0.1039 None gnomAD-3.1.2 6.57E-06
34331 74 Y/C 154 rs765213170 0.1039 None gnomAD-4.0.0 1.11531E-05
34331 74 Y/D 154 None 0.1039 None gnomAD-4.0.0 1.59099E-06
34331 74 Y/F 154 rs765213170 0.1039 None gnomAD-3.1.2 6.57E-06
34331 74 Y/F 154 rs765213170 0.1039 None gnomAD-4.0.0 6.56806E-06
34332 75 T/A 155 rs1450806366 0.1733 None gnomAD-2.1.1 3.19E-05
34332 75 T/A 155 rs1450806366 0.1733 None gnomAD-3.1.2 2.63E-05
34332 75 T/A 155 rs1450806366 0.1733 None gnomAD-4.0.0 5.07448E-06
34333 76 V/A 156 None 0.0750 None gnomAD-4.0.0 1.20032E-06
34333 76 V/I 156 rs763815899 0.0750 None gnomAD-2.1.1 4.02E-06
34333 76 V/I 156 rs763815899 0.0750 None gnomAD-4.0.0 3.182E-06
34333 76 V/L 156 rs763815899 0.0750 None gnomAD-2.1.1 4.02E-06
34333 76 V/L 156 rs763815899 0.0750 None gnomAD-4.0.0 1.591E-06
34334 77 V/E 157 None 0.2257 None gnomAD-4.0.0 4.77297E-06
34334 77 V/G 157 rs760991295 0.2257 None gnomAD-2.1.1 4.02E-06
34334 77 V/G 157 rs760991295 0.2257 None gnomAD-4.0.0 1.59099E-06
34335 78 A/E 158 rs1485724305 0.0894 None gnomAD-2.1.1 4.02E-06
34335 78 A/E 158 rs1485724305 0.0894 None gnomAD-4.0.0 6.84163E-07
34335 78 A/G 158 rs1485724305 0.0894 None gnomAD-2.1.1 4.02E-06
34335 78 A/G 158 rs1485724305 0.0894 None gnomAD-4.0.0 6.84163E-07
34335 78 A/S 158 rs1267620209 0.0894 None gnomAD-4.0.0 1.59101E-06
34335 78 A/V 158 None 0.0894 None gnomAD-4.0.0 6.84163E-07
34336 79 R/K 159 None 0.6181 None gnomAD-4.0.0 1.36832E-06
34338 81 K/Q 162 None 0.4155 None gnomAD-4.0.0 1.59099E-06
34338 81 K/T 162 None 0.4155 None gnomAD-4.0.0 1.20032E-06
34340 83 G/A 164 rs1211065675 0.3045 None gnomAD-2.1.1 4.02E-06
34340 83 G/A 164 rs1211065675 0.3045 None gnomAD-4.0.0 1.59102E-06
34341 84 E/D 165 rs1330415230 0.6181 None gnomAD-2.1.1 4.02E-06
34343 86 S/R 168 rs375852057 0.4880 None gnomAD-2.1.1 4.02E-06
34343 86 S/R 168 rs375852057 0.4880 None gnomAD-4.0.0 2.40066E-06
34346 89 A/T 172 None 0.1070 None gnomAD-4.0.0 1.59102E-06
34346 89 A/V 172 None 0.1070 None gnomAD-4.0.0 1.59106E-06
34347 90 K/R 173 rs1187906800 0.3015 None gnomAD-3.1.2 6.57E-06
34347 90 K/R 173 rs1187906800 0.3015 None gnomAD-4.0.0 6.56901E-06
34348 91 L/P 174 rs1559027230 0.0808 None gnomAD-4.0.0 1.20032E-06
34350 93 V/L 178 None 0.1898 None gnomAD-4.0.0 4.77319E-06