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

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
34258 1 P/S 1 rs752360286 0.2069 None gnomAD-2.1.1 8.03E-06
34258 1 P/S 1 rs752360286 0.2069 None gnomAD-4.0.0 1.02624E-05
34258 1 P/T 1 rs752360286 0.2069 None gnomAD-2.1.1 4.42E-05
34258 1 P/T 1 rs752360286 0.2069 None gnomAD-3.1.2 4.6E-05
34258 1 P/T 1 rs752360286 0.2069 None gnomAD-4.0.0 3.90374E-05
34259 2 E/K 2 rs1301566986 0.7184 None gnomAD-3.1.2 6.57E-06
34259 2 E/K 2 rs1301566986 0.7184 None gnomAD-4.0.0 1.23928E-06
34259 2 E/Q 2 None 0.7184 None gnomAD-4.0.0 6.84161E-07
34260 3 F/L 3 rs767251580 0.1766 None gnomAD-3.1.2 6.57E-06
34260 3 F/L 3 rs767251580 0.1766 None gnomAD-4.0.0 6.56978E-06
34261 4 T/I 4 None 0.3894 None gnomAD-4.0.0 6.84159E-07
34261 4 T/N 4 rs985229219 0.3894 None gnomAD-2.1.1 8.03E-06
34261 4 T/N 4 rs985229219 0.3894 None gnomAD-3.1.2 6.57E-06
34261 4 T/N 4 rs985229219 0.3894 None gnomAD-4.0.0 1.3632E-05
34261 4 T/P 4 rs759169479 0.3894 None gnomAD-4.0.0 1.09923E-04
34261 4 T/S 4 None 0.3894 None gnomAD-4.0.0 6.84159E-07
34262 5 L/M 5 None 0.6609 None gnomAD-4.0.0 6.8416E-07
34262 5 L/V 5 None 0.6609 None gnomAD-4.0.0 6.8416E-07
34263 6 P/S 7 rs1690264477 0.4111 None gnomAD-3.1.2 6.57E-06
34263 6 P/S 7 rs1690264477 0.4111 None gnomAD-4.0.0 4.05983E-06
34264 7 L/F 8 rs773984912 0.1473 None gnomAD-2.1.1 3.21E-05
34264 7 L/F 8 rs773984912 0.1473 None gnomAD-4.0.0 1.84722E-05
34264 7 L/P 8 None 0.1473 None gnomAD-4.0.0 1.59096E-06
34264 7 L/V 8 None 0.1473 None gnomAD-4.0.0 6.84155E-07
34265 8 Y/C 9 rs1559030437 0.5433 None gnomAD-4.0.0 5.47324E-06
34266 9 N/D 11 rs1167687090 0.5395 None gnomAD-2.1.1 4.01E-06
34266 9 N/D 11 rs1167687090 0.5395 None gnomAD-4.0.0 1.36831E-06
34266 9 N/S 11 None 0.5395 None gnomAD-4.0.0 1.20032E-06
34266 9 N/Y 11 None 0.5395 None gnomAD-4.0.0 2.05246E-06
34267 10 K/E 13 rs1690256257 0.1806 None gnomAD-4.0.0 1.591E-06
34267 10 K/M 13 rs879206062 0.1806 None gnomAD-2.1.1 4.01E-06
34267 10 K/M 13 rs879206062 0.1806 None gnomAD-4.0.0 6.84167E-07
34267 10 K/R 13 rs879206062 0.1806 None gnomAD-4.0.0 2.0525E-06
34269 12 A/G 16 None 0.1527 None gnomAD-4.0.0 1.20032E-06
34269 12 A/P 16 rs1690251007 0.1527 None gnomAD-3.1.2 6.57E-06
34269 12 A/P 16 rs1690251007 0.1527 None gnomAD-4.0.0 6.56961E-06
34270 13 Y/H 18 rs1339846795 0.2817 None gnomAD-2.1.1 3.18E-05
34270 13 Y/H 18 rs1339846795 0.2817 None gnomAD-3.1.2 6.57E-06
34270 13 Y/H 18 rs1339846795 0.2817 None gnomAD-4.0.0 6.57099E-06
34270 13 Y/S 18 rs773071400 0.2817 None gnomAD-2.1.1 8.03E-06
34270 13 Y/S 18 rs773071400 0.2817 None gnomAD-4.0.0 3.18189E-06
34271 14 V/A 23 None 0.3643 None gnomAD-4.0.0 1.59095E-06
34271 14 V/I 23 rs794727542 0.3643 None gnomAD-2.1.1 8.03E-06
34271 14 V/I 23 rs794727542 0.3643 None gnomAD-4.0.0 2.73664E-06
34271 14 V/L 23 rs794727542 0.3643 None gnomAD-2.1.1 8.03E-06
34271 14 V/L 23 rs794727542 0.3643 None gnomAD-4.0.0 2.05248E-06
34272 15 G/R 24 rs794729562 0.3135 None gnomAD-2.1.1 8.03E-06
34272 15 G/R 24 rs794729562 0.3135 None gnomAD-4.0.0 1.36831E-05
34272 15 G/S 24 rs794729562 0.3135 None gnomAD-3.1.2 6.57E-06
34272 15 G/S 24 rs794729562 0.3135 None gnomAD-4.0.0 6.57073E-06
34274 17 N/H 26 rs748399505 0.5734 None gnomAD-2.1.1 2.01E-05
34274 17 N/H 26 rs748399505 0.5734 None gnomAD-4.0.0 1.11369E-05
34275 18 V/I 28 rs879063086 0.1592 None gnomAD-2.1.1 1.61E-05
34275 18 V/I 28 rs879063086 0.1592 None gnomAD-3.1.2 2.63E-05
34275 18 V/I 28 rs879063086 0.1592 None gnomAD-4.0.0 4.33746E-06
34276 19 R/L 29 None 0.3667 None gnomAD-4.0.0 6.84158E-07
34276 19 R/Q 29 rs199932621 0.3667 None gnomAD-2.1.1 3.92E-05
34276 19 R/Q 29 rs199932621 0.3667 None gnomAD-3.1.2 3.29E-05
34276 19 R/Q 29 rs199932621 0.3667 None gnomAD-4.0.0 2.41662E-05
34276 19 R/W 29 rs781432886 0.3667 None gnomAD-2.1.1 3.61E-05
34276 19 R/W 29 rs781432886 0.3667 None gnomAD-3.1.2 1.97E-05
34276 19 R/W 29 rs781432886 0.3667 None gnomAD-4.0.0 1.17735E-05
34278 21 G/R 31 None 0.2412 None gnomAD-4.0.0 1.20032E-06
34278 21 G/V 31 rs3731752 0.2412 None gnomAD-2.1.1 3.93119E-02
34278 21 G/V 31 rs3731752 0.2412 None gnomAD-3.1.2 4.09242E-02
34278 21 G/V 31 rs3731752 0.2412 None 1000 genomes 7.80751E-02
34278 21 G/V 31 rs3731752 0.2412 None gnomAD-4.0.0 2.92833E-02
34279 22 V/I 33 rs779989647 0.0974 None gnomAD-2.1.1 8.03E-06
34279 22 V/I 33 rs779989647 0.0974 None gnomAD-4.0.0 3.42077E-06
34279 22 V/L 33 rs779989647 0.0974 None gnomAD-3.1.2 6.57E-06
34279 22 V/L 33 rs779989647 0.0974 None gnomAD-4.0.0 6.57039E-06
34280 23 T/I 34 rs886042505 0.2470 None gnomAD-2.1.1 8.03E-06
34280 23 T/I 34 rs886042505 0.2470 None gnomAD-3.1.2 6.57E-06
34280 23 T/I 34 rs886042505 0.2470 None gnomAD-4.0.0 3.84252E-06
34281 24 I/L 35 rs758945559 0.1189 None gnomAD-2.1.1 4.01E-06
34281 24 I/L 35 rs758945559 0.1189 None gnomAD-4.0.0 4.78906E-06
34281 24 I/M 35 None 0.1189 None gnomAD-4.0.0 3.60097E-06
34281 24 I/R 35 rs779369864 0.1189 None gnomAD-2.1.1 4.01E-06
34281 24 I/R 35 rs779369864 0.1189 None gnomAD-4.0.0 1.36831E-06
34281 24 I/T 35 rs779369864 0.1189 None gnomAD-2.1.1 3.21E-05
34281 24 I/T 35 rs779369864 0.1189 None gnomAD-3.1.2 1.31E-05
34281 24 I/T 35 rs779369864 0.1189 None gnomAD-4.0.0 1.05337E-05
34281 24 I/V 35 rs758945559 0.1189 None gnomAD-2.1.1 8.03E-06
34281 24 I/V 35 rs758945559 0.1189 None gnomAD-3.1.2 6.57E-06
34281 24 I/V 35 rs758945559 0.1189 None gnomAD-4.0.0 1.85885E-06
34282 25 T/N 38 rs369595031 0.5861 None gnomAD-2.1.1 4.01E-06
34282 25 T/N 38 rs369595031 0.5861 None gnomAD-3.1.2 6.57E-06
34282 25 T/N 38 rs369595031 0.5861 None gnomAD-4.0.0 6.56961E-06
34284 27 H/R 41 rs879025670 0.9910 None gnomAD-4.0.0 1.59098E-06
34285 28 P/A 42 rs794729563 0.4344 None gnomAD-4.0.0 3.42079E-06
34285 28 P/L 42 rs1690211632 0.4344 None gnomAD-3.1.2 6.57E-06
34285 28 P/L 42 rs1690211632 0.4344 None gnomAD-4.0.0 6.57272E-06
34285 28 P/S 42 None 0.4344 None gnomAD-4.0.0 3.42079E-06
34285 28 P/T 42 None 0.4344 None gnomAD-4.0.0 6.84158E-07
34286 29 E/D 43 None 0.7381 None gnomAD-4.0.0 1.20032E-06
34286 29 E/K 43 rs1211102560 0.7381 None gnomAD-4.0.0 1.59097E-06
34286 29 E/Q 43 None 0.7381 None gnomAD-4.0.0 1.59097E-06
34286 29 E/V 43 None 0.7381 None gnomAD-4.0.0 1.59095E-06
34287 30 P/T 44 None 0.1578 None gnomAD-4.0.0 1.20032E-06
34289 32 V/A 46 rs1370660271 0.2134 None gnomAD-2.1.1 4.02E-06
34289 32 V/A 46 rs1370660271 0.2134 None gnomAD-4.0.0 3.18196E-06
34290 33 T/P 47 None 0.3037 None gnomAD-4.0.0 2.40064E-06
34290 33 T/R 47 None 0.3037 None gnomAD-4.0.0 1.20032E-06
34291 34 W/C 48 None 0.1326 None gnomAD-4.0.0 1.59102E-06
34291 34 W/G 48 rs1690204801 0.1326 None gnomAD-4.0.0 3.18196E-06
34292 35 Y/H 49 rs1690203448 0.2522 None gnomAD-3.1.2 6.57E-06
34292 35 Y/H 49 rs1690203448 0.2522 None gnomAD-4.0.0 3.09828E-06
34293 36 K/E 50 rs72629783 0.1598 None gnomAD-2.1.1 1.99709E-04
34293 36 K/E 50 rs72629783 0.1598 None gnomAD-3.1.2 1.51097E-04
34293 36 K/E 50 rs72629783 0.1598 None gnomAD-4.0.0 1.90833E-04
34297 40 K/N 56 rs1019464699 0.4449 None gnomAD-2.1.1 3.18E-05
34297 40 K/N 56 rs1019464699 0.4449 None gnomAD-3.1.2 6.57E-06
34297 40 K/N 56 rs1019464699 0.4449 None gnomAD-4.0.0 2.02984E-06
34300 43 P/L 70 rs186977868 0.5904 None gnomAD-2.1.1 1.21E-05
34300 43 P/L 70 rs186977868 0.5904 None gnomAD-3.1.2 6.57E-06
34300 43 P/L 70 rs186977868 0.5904 None 1000 genomes 1.99681E-04
34300 43 P/L 70 rs186977868 0.5904 None gnomAD-4.0.0 5.12327E-06
34300 43 P/S 70 None 0.5904 None gnomAD-4.0.0 1.20032E-06
34300 43 P/T 70 None 0.5904 None gnomAD-4.0.0 1.20032E-06
34304 47 D/E 113 None 0.7053 None gnomAD-4.0.0 1.20032E-06
34304 47 D/N 113 rs1690185819 0.7053 None gnomAD-3.1.2 6.57E-06
34304 47 D/N 113 rs1690185819 0.7053 None gnomAD-4.0.0 6.57117E-06
34305 48 K/R 114 rs2154135333 0.9509 None gnomAD-4.0.0 1.59102E-06
34307 50 Y/C 121 None 0.1970 None gnomAD-4.0.0 1.20033E-06
34307 50 Y/N 121 rs769306235 0.1970 None gnomAD-2.1.1 1.21E-05
34307 50 Y/N 121 rs769306235 0.1970 None gnomAD-4.0.0 1.84726E-05
34308 51 T/I 122 rs528711725 0.3967 None gnomAD-2.1.1 1.21E-05
34308 51 T/I 122 rs528711725 0.3967 None gnomAD-3.1.2 6.57E-06
34308 51 T/I 122 rs528711725 0.3967 None 1000 genomes 1.99681E-04
34308 51 T/I 122 rs528711725 0.3967 None gnomAD-4.0.0 3.84214E-06
34308 51 T/P 122 rs769739303 0.3967 None gnomAD-2.1.1 1.61E-05
34308 51 T/P 122 rs769739303 0.3967 None gnomAD-4.0.0 1.90927E-05
34309 52 F/S 123 rs776393529 0.3644 None gnomAD-2.1.1 1.07E-05
34309 52 F/S 123 rs776393529 0.3644 None gnomAD-3.1.2 1.97E-05
34309 52 F/S 123 rs776393529 0.3644 None gnomAD-4.0.0 6.40494E-06
34310 53 E/K 125 rs768930172 0.4666 None gnomAD-2.1.1 4.02E-06
34310 53 E/K 125 rs768930172 0.4666 None gnomAD-3.1.2 6.57E-06
34310 53 E/K 125 rs768930172 0.4666 None gnomAD-4.0.0 2.4786E-06
34311 54 S/P 127 rs566139261 0.6680 None gnomAD-2.1.1 4.02E-06
34311 54 S/P 127 rs566139261 0.6680 None gnomAD-3.1.2 6.58E-06
34311 54 S/P 127 rs566139261 0.6680 None 1000 genomes 1.99681E-04
34311 54 S/P 127 rs566139261 0.6680 None gnomAD-4.0.0 6.57177E-06
34314 57 G/A 134 None 0.2083 None gnomAD-4.0.0 1.59101E-06
34314 57 G/R 134 rs772007737 0.2083 None gnomAD-2.1.1 8.04E-06
34314 57 G/V 134 None 0.2083 None gnomAD-4.0.0 1.59101E-06
34315 58 L/I 135 rs1305429779 0.3367 None gnomAD-4.0.0 1.59103E-06
34315 58 L/V 135 rs1305429779 0.3367 None gnomAD-2.1.1 4.02E-06
34315 58 L/V 135 rs1305429779 0.3367 None gnomAD-4.0.0 1.59103E-06
34316 59 Y/C 136 rs1406877841 0.1960 None gnomAD-3.1.2 6.57E-06
34316 59 Y/C 136 rs1406877841 0.1960 None gnomAD-4.0.0 6.56996E-06
34316 59 Y/H 136 None 0.1960 None gnomAD-4.0.0 1.20032E-06
34317 60 Q/R 137 rs745933614 0.2201 None gnomAD-2.1.1 2.01E-05
34317 60 Q/R 137 rs745933614 0.2201 None gnomAD-4.0.0 6.84159E-06
34319 62 T/A 139 rs768829243 0.1594 None gnomAD-2.1.1 1.21E-05
34319 62 T/A 139 rs768829243 0.1594 None gnomAD-3.1.2 6.57E-06
34319 62 T/A 139 rs768829243 0.1594 None gnomAD-4.0.0 8.67492E-06
34319 62 T/I 139 rs549304089 0.1594 None gnomAD-2.1.1 6.03E-05
34319 62 T/I 139 rs549304089 0.1594 None gnomAD-3.1.2 1.31E-05
34319 62 T/I 139 rs549304089 0.1594 None 1000 genomes 1.99681E-04
34319 62 T/I 139 rs549304089 0.1594 None gnomAD-4.0.0 2.23062E-05
34322 65 S/N 143 rs763242057 0.4725 None gnomAD-2.1.1 2.01E-05
34322 65 S/N 143 rs763242057 0.4725 None gnomAD-3.1.2 1.97E-05
34322 65 S/N 143 rs763242057 0.4725 None gnomAD-4.0.0 2.72646E-05
34322 65 S/R 143 None 0.4725 None gnomAD-4.0.0 1.59102E-06
34322 65 S/T 143 rs763242057 0.4725 None gnomAD-2.1.1 4.02E-06
34322 65 S/T 143 rs763242057 0.4725 None gnomAD-4.0.0 6.84165E-07
34323 66 V/G 144 rs1307866503 0.0954 None gnomAD-4.0.0 1.59099E-06
34326 69 D/N 148 rs1227502652 0.7248 None gnomAD-3.1.2 6.57E-06
34326 69 D/N 148 rs1227502652 0.7248 None gnomAD-4.0.0 6.56935E-06
34327 70 D/N 149 None 0.1111 None gnomAD-4.0.0 1.59099E-06
34328 71 D/E 151 rs541125667 0.3583 None gnomAD-2.1.1 4.02E-06
34328 71 D/E 151 rs541125667 0.3583 None gnomAD-4.0.0 2.0525E-06
34329 72 A/D 152 None 0.1187 None gnomAD-4.0.0 6.84159E-07
34329 72 A/T 152 rs749925915 0.1187 None gnomAD-2.1.1 1.43E-05
34329 72 A/T 152 rs749925915 0.1187 None gnomAD-3.1.2 1.31E-05
34329 72 A/T 152 rs749925915 0.1187 None gnomAD-4.0.0 1.23929E-05
34329 72 A/V 152 rs1472884048 0.1187 None gnomAD-2.1.1 4.02E-06
34329 72 A/V 152 rs1472884048 0.1187 None gnomAD-3.1.2 1.97E-05
34329 72 A/V 152 rs1472884048 0.1187 None gnomAD-4.0.0 5.57687E-06
34330 73 E/K 153 None 0.3967 None gnomAD-4.0.0 3.60097E-06
34331 74 Y/C 154 rs765213170 0.0926 None gnomAD-2.1.1 8.03E-06
34331 74 Y/C 154 rs765213170 0.0926 None gnomAD-3.1.2 6.57E-06
34331 74 Y/C 154 rs765213170 0.0926 None gnomAD-4.0.0 1.11531E-05
34331 74 Y/D 154 None 0.0926 None gnomAD-4.0.0 1.59099E-06
34331 74 Y/F 154 rs765213170 0.0926 None gnomAD-3.1.2 6.57E-06
34331 74 Y/F 154 rs765213170 0.0926 None gnomAD-4.0.0 6.56806E-06
34332 75 T/A 155 rs1450806366 0.1667 None gnomAD-2.1.1 3.19E-05
34332 75 T/A 155 rs1450806366 0.1667 None gnomAD-3.1.2 2.63E-05
34332 75 T/A 155 rs1450806366 0.1667 None gnomAD-4.0.0 5.07448E-06
34333 76 V/A 156 None 0.0696 None gnomAD-4.0.0 1.20032E-06
34333 76 V/I 156 rs763815899 0.0696 None gnomAD-2.1.1 4.02E-06
34333 76 V/I 156 rs763815899 0.0696 None gnomAD-4.0.0 3.182E-06
34333 76 V/L 156 rs763815899 0.0696 None gnomAD-2.1.1 4.02E-06
34333 76 V/L 156 rs763815899 0.0696 None gnomAD-4.0.0 1.591E-06
34334 77 V/E 157 None 0.2187 None gnomAD-4.0.0 4.77297E-06
34334 77 V/G 157 rs760991295 0.2187 None gnomAD-2.1.1 4.02E-06
34334 77 V/G 157 rs760991295 0.2187 None gnomAD-4.0.0 1.59099E-06
34335 78 A/E 158 rs1485724305 0.0830 None gnomAD-2.1.1 4.02E-06
34335 78 A/E 158 rs1485724305 0.0830 None gnomAD-4.0.0 6.84163E-07
34335 78 A/G 158 rs1485724305 0.0830 None gnomAD-2.1.1 4.02E-06
34335 78 A/G 158 rs1485724305 0.0830 None gnomAD-4.0.0 6.84163E-07
34335 78 A/S 158 rs1267620209 0.0830 None gnomAD-4.0.0 1.59101E-06
34335 78 A/V 158 None 0.0830 None gnomAD-4.0.0 6.84163E-07
34336 79 R/K 159 None 0.5412 None gnomAD-4.0.0 1.36832E-06
34338 81 K/Q 162 None 0.4572 None gnomAD-4.0.0 1.59099E-06
34338 81 K/T 162 None 0.4572 None gnomAD-4.0.0 1.20032E-06
34340 83 G/A 164 rs1211065675 0.2971 None gnomAD-2.1.1 4.02E-06
34340 83 G/A 164 rs1211065675 0.2971 None gnomAD-4.0.0 1.59102E-06
34341 84 E/D 165 rs1330415230 0.5823 None gnomAD-2.1.1 4.02E-06
34343 86 S/R 168 rs375852057 0.4130 None gnomAD-2.1.1 4.02E-06
34343 86 S/R 168 rs375852057 0.4130 None gnomAD-4.0.0 2.40066E-06
34346 89 A/T 172 None 0.0958 None gnomAD-4.0.0 1.59102E-06
34346 89 A/V 172 None 0.0958 None gnomAD-4.0.0 1.59106E-06
34347 90 K/R 173 rs1187906800 0.4846 None gnomAD-3.1.2 6.57E-06
34347 90 K/R 173 rs1187906800 0.4846 None gnomAD-4.0.0 6.56901E-06
34348 91 L/P 174 rs1559027230 0.0787 None gnomAD-4.0.0 1.20032E-06
34350 93 V/L 178 None 0.1587 None gnomAD-4.0.0 4.77319E-06