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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
15031 1 A/G 1 rs780981695 0.4669 None gnomAD-4.0.0 6.85521E-07
15031 1 A/P 1 rs2058306842 0.4669 None gnomAD-3.1.2 6.59E-06
15031 1 A/P 1 rs2058306842 0.4669 None gnomAD-4.0.0 6.58614E-06
15031 1 A/V 1 None 0.4669 None gnomAD-4.0.0 2.74208E-06
15032 2 V/A 2 rs1358140088 0.5730 None gnomAD-3.1.2 6.58E-06
15032 2 V/A 2 rs1358140088 0.5730 None gnomAD-4.0.0 2.57058E-06
15032 2 V/I 2 rs768820093 0.5730 None gnomAD-2.1.1 4.1E-06
15034 4 T/A 4 None 0.4292 None gnomAD-4.0.0 1.20032E-06
15035 5 K/R 5 None 0.5943 None gnomAD-4.0.0 1.20032E-06
15036 6 N/S 7 rs1256583434 0.6504 None gnomAD-2.1.1 4.08E-06
15036 6 N/S 7 rs1256583434 0.6504 None gnomAD-4.0.0 3.19258E-06
15037 7 L/P 8 None 0.1872 None gnomAD-4.0.0 1.20032E-06
15038 8 A/G 9 rs368158748 0.5496 None gnomAD-2.1.1 4.08E-06
15038 8 A/G 9 rs368158748 0.5496 None gnomAD-4.0.0 2.40064E-06
15038 8 A/V 9 rs368158748 0.5496 None gnomAD-3.1.2 1.32E-05
15038 8 A/V 9 rs368158748 0.5496 None gnomAD-4.0.0 4.06112E-06
15039 9 N/D 11 None 0.6627 None gnomAD-4.0.0 1.20032E-06
15039 9 N/K 11 rs758487494 0.6627 None gnomAD-2.1.1 4.07E-06
15039 9 N/K 11 rs758487494 0.6627 None gnomAD-4.0.0 1.59571E-06
15040 10 I/M 13 rs74580375 0.2855 None gnomAD-2.1.1 1.07626E-03
15040 10 I/M 13 rs74580375 0.2855 None gnomAD-3.1.2 6.32053E-04
15040 10 I/M 13 rs74580375 0.2855 None 1000 genomes 3.79393E-03
15040 10 I/M 13 rs74580375 0.2855 None gnomAD-4.0.0 3.92098E-04
15040 10 I/T 13 rs1334750715 0.2855 None gnomAD-3.1.2 1.32E-05
15040 10 I/T 13 rs1334750715 0.2855 None gnomAD-4.0.0 2.48169E-06
15041 11 E/G 14 None 0.5372 None gnomAD-4.0.0 2.40064E-06
15042 12 V/I 16 None 0.1801 None gnomAD-4.0.0 1.20033E-06
15043 13 S/N 18 rs376144178 0.2817 None gnomAD-2.1.1 4.33E-05
15043 13 S/N 18 rs376144178 0.2817 None gnomAD-3.1.2 3.95E-05
15043 13 S/N 18 rs376144178 0.2817 None gnomAD-4.0.0 7.38245E-05
15045 15 T/A 24 None 0.6495 None gnomAD-4.0.0 1.5949E-06
15046 16 D/E 25 None 0.3805 None gnomAD-4.0.0 3.60097E-06
15046 16 D/G 25 rs754204056 0.3805 None gnomAD-2.1.1 3.25E-05
15046 16 D/G 25 rs754204056 0.3805 None gnomAD-4.0.0 1.43819E-05
15047 17 T/P 26 rs764583221 0.4319 None gnomAD-2.1.1 4.06E-06
15047 17 T/P 26 rs764583221 0.4319 None gnomAD-4.0.0 1.59476E-06
15048 18 I/K 28 rs727505261 0.1413 None gnomAD-2.1.1 4.06E-06
15048 18 I/K 28 rs727505261 0.1413 None gnomAD-4.0.0 6.84814E-07
15048 18 I/T 28 rs727505261 0.1413 None gnomAD-2.1.1 8.12E-06
15048 18 I/T 28 rs727505261 0.1413 None gnomAD-3.1.2 1.98E-05
15048 18 I/T 28 rs727505261 0.1413 None gnomAD-4.0.0 1.17857E-05
15051 21 V/A 31 rs751236128 0.2685 None gnomAD-2.1.1 2.03E-05
15051 21 V/A 31 rs751236128 0.2685 None gnomAD-3.1.2 6.59E-06
15051 21 V/A 31 rs751236128 0.2685 None gnomAD-4.0.0 1.61287E-05
15052 22 C/Y 33 rs2058300029 0.0820 None gnomAD-4.0.0 2.05432E-06
15053 23 E/Q 34 None 0.2470 None gnomAD-4.0.0 1.20034E-06
15054 24 V/G 35 None 0.0857 None gnomAD-4.0.0 1.59419E-06
15055 25 S/P 38 None 0.2443 None gnomAD-4.0.0 1.36951E-06
15055 25 S/T 38 None 0.2443 None gnomAD-4.0.0 6.84754E-07
15056 26 K/I 40 None 0.6131 None gnomAD-4.0.0 1.20032E-06
15056 26 K/R 40 None 0.6131 None gnomAD-4.0.0 1.20032E-06
15057 27 P/S 41 None 0.4592 None gnomAD-4.0.0 6.84736E-07
15059 29 A/T 44 rs144668626 0.2094 None gnomAD-2.1.1 2.68029E-03
15059 29 A/T 44 rs144668626 0.2094 None gnomAD-3.1.2 1.58768E-03
15059 29 A/T 44 rs144668626 0.2094 None 1000 genomes 3.39457E-03
15059 29 A/T 44 rs144668626 0.2094 None gnomAD-4.0.0 1.86556E-03
15059 29 A/V 44 rs2154212133 0.2094 None gnomAD-3.1.2 6.59E-06
15059 29 A/V 44 rs2154212133 0.2094 None gnomAD-4.0.0 6.58562E-06
15061 31 V/G 46 None 0.2316 None gnomAD-4.0.0 1.5938E-06
15062 32 I/T 47 rs373627060 0.4795 None gnomAD-2.1.1 5.66E-05
15062 32 I/T 47 rs373627060 0.4795 None gnomAD-3.1.2 1.98E-05
15062 32 I/T 47 rs373627060 0.4795 None 1000 genomes 1.99681E-04
15062 32 I/T 47 rs373627060 0.4795 None gnomAD-4.0.0 2.29474E-05
15063 33 W/R 48 None 0.1372 None gnomAD-4.0.0 1.20032E-06
15064 34 Y/F 49 rs1194753380 0.1572 None gnomAD-3.1.2 6.58E-06
15064 34 Y/F 49 rs1194753380 0.1572 None gnomAD-4.0.0 6.58423E-06
15065 35 K/R 50 rs776374474 0.2351 None gnomAD-2.1.1 4.04E-06
15065 35 K/R 50 rs776374474 0.2351 None gnomAD-4.0.0 1.59378E-06
15066 36 G/E 51 rs746860214 0.2979 None gnomAD-2.1.1 8.08E-06
15066 36 G/E 51 rs746860214 0.2979 None gnomAD-3.1.2 1.98E-05
15066 36 G/E 51 rs746860214 0.2979 None gnomAD-4.0.0 1.97623E-05
15066 36 G/R 51 rs768414586 0.2979 None gnomAD-2.1.1 4.04E-06
15066 36 G/R 51 rs768414586 0.2979 None gnomAD-4.0.0 1.36935E-06
15067 37 D/E 52 rs745901229 0.9880 None gnomAD-2.1.1 4.04E-06
15067 37 D/E 52 rs745901229 0.9880 None gnomAD-4.0.0 1.16392E-05
15067 37 D/N 52 rs370904881 0.9880 None gnomAD-2.1.1 5.74E-05
15067 37 D/N 52 rs370904881 0.9880 None gnomAD-3.1.2 3.95E-05
15067 37 D/N 52 rs370904881 0.9880 None gnomAD-4.0.0 9.36528E-05
15067 37 D/V 52 None 0.9880 None gnomAD-4.0.0 2.05401E-06
15068 38 E/K 55 rs2058292632 0.8135 None gnomAD-3.1.2 6.59E-06
15068 38 E/K 55 rs2058292632 0.8135 None gnomAD-4.0.0 1.55046E-05
15069 39 E/V 56 rs114331773 0.4189 None gnomAD-2.1.1 6.41614E-03
15069 39 E/V 56 rs114331773 0.4189 None gnomAD-3.1.2 1.6895E-02
15069 39 E/V 56 rs114331773 0.4189 None 1000 genomes 1.69728E-02
15069 39 E/V 56 rs114331773 0.4189 None gnomAD-4.0.0 3.79652E-03
15070 40 I/M 58 rs749782273 0.1469 None gnomAD-2.1.1 4.04E-06
15070 40 I/M 58 rs749782273 0.1469 None gnomAD-4.0.0 1.59372E-06
15070 40 I/T 58 None 0.1469 None gnomAD-4.0.0 1.59368E-06
15070 40 I/V 58 rs757799030 0.1469 None gnomAD-2.1.1 4.04E-06
15070 40 I/V 58 rs757799030 0.1469 None gnomAD-4.0.0 9.56215E-06
15071 41 I/T 59 rs184078045 0.7677 None gnomAD-2.1.1 6.81E-05
15071 41 I/T 59 rs184078045 0.7677 None gnomAD-3.1.2 6.59E-05
15071 41 I/T 59 rs184078045 0.7677 None 1000 genomes 7.98722E-04
15071 41 I/T 59 rs184078045 0.7677 None gnomAD-4.0.0 2.54265E-05
15071 41 I/V 59 rs1441511907 0.7677 None gnomAD-2.1.1 4.04E-06
15071 41 I/V 59 rs1441511907 0.7677 None gnomAD-4.0.0 6.37462E-06
15072 42 E/K 70 rs963923376 0.4221 None gnomAD-2.1.1 8.08E-06
15072 42 E/K 70 rs963923376 0.4221 None gnomAD-4.0.0 2.73863E-06
15073 43 T/A 73 rs1444196912 0.6197 None gnomAD-2.1.1 4.04E-06
15073 43 T/A 73 rs1444196912 0.6197 None gnomAD-4.0.0 4.79256E-06
15076 46 Y/H 121 None 0.2820 None gnomAD-4.0.0 1.36932E-06
15077 47 E/G 122 None 0.4073 None gnomAD-4.0.0 2.40064E-06
15078 48 I/L 123 rs756536427 0.2683 None gnomAD-2.1.1 4.04E-06
15078 48 I/L 123 rs756536427 0.2683 None gnomAD-4.0.0 6.8465E-07
15078 48 I/V 123 None 0.2683 None gnomAD-4.0.0 6.8465E-07
15080 50 T/I 127 None 0.5441 None gnomAD-4.0.0 1.20032E-06
15082 52 G/E 131 rs1400844297 0.3568 None gnomAD-3.1.2 6.59E-06
15083 53 R/P 134 rs191551032 0.4472 None gnomAD-4.0.0 3.4234E-06
15083 53 R/Q 134 rs191551032 0.4472 None gnomAD-2.1.1 4.84E-05
15083 53 R/Q 134 rs191551032 0.4472 None gnomAD-3.1.2 6.59E-06
15083 53 R/Q 134 rs191551032 0.4472 None gnomAD-4.0.0 2.29483E-05
15083 53 R/W 134 rs199834143 0.4472 None gnomAD-2.1.1 7.52E-05
15083 53 R/W 134 rs199834143 0.4472 None gnomAD-3.1.2 9.23E-05
15083 53 R/W 134 rs199834143 0.4472 None gnomAD-4.0.0 1.01719E-04
15084 54 K/E 135 None 0.4454 None gnomAD-4.0.0 3.18747E-06
15085 55 R/S 136 rs749903521 0.0979 None gnomAD-3.1.2 1.32E-05
15085 55 R/S 136 rs749903521 0.0979 None gnomAD-4.0.0 3.84987E-06
15085 55 R/T 136 rs542139839 0.0979 None gnomAD-2.1.1 1.43E-05
15085 55 R/T 136 rs542139839 0.0979 None gnomAD-3.1.2 1.98E-05
15085 55 R/T 136 rs542139839 0.0979 None 1000 genomes 3.99361E-04
15085 55 R/T 136 rs542139839 0.0979 None gnomAD-4.0.0 7.69841E-06
15086 56 I/V 137 None 0.1101 None gnomAD-4.0.0 1.59385E-06
15088 58 V/L 139 rs1281379374 0.1778 None gnomAD-2.1.1 3.19E-05
15088 58 V/L 139 rs1281379374 0.1778 None gnomAD-3.1.2 6.59E-06
15088 58 V/L 139 rs1281379374 0.1778 None gnomAD-4.0.0 6.58605E-06
15089 59 I/T 140 None 0.0807 None gnomAD-4.0.0 1.59375E-06
15090 60 Q/H 141 None 0.6374 None gnomAD-4.0.0 6.8468E-07
15090 60 Q/K 141 rs397517579 0.6374 None gnomAD-2.1.1 1.25051E-04
15090 60 Q/K 141 rs397517579 0.6374 None gnomAD-3.1.2 1.98E-05
15090 60 Q/K 141 rs397517579 0.6374 None gnomAD-4.0.0 6.63619E-05
15091 61 N/D 143 rs776532148 0.4711 None gnomAD-2.1.1 4.03E-06
15091 61 N/D 143 rs776532148 0.4711 None gnomAD-4.0.0 2.7387E-06
15091 61 N/Y 143 rs776532148 0.4711 None gnomAD-2.1.1 1.61E-05
15091 61 N/Y 143 rs776532148 0.4711 None gnomAD-4.0.0 1.16395E-05
15092 62 A/S 144 None 0.0913 None gnomAD-4.0.0 6.8469E-07
15092 62 A/T 144 rs760392307 0.0913 None gnomAD-2.1.1 3.63E-05
15092 62 A/T 144 rs760392307 0.0913 None gnomAD-3.1.2 2.63E-05
15092 62 A/T 144 rs760392307 0.0913 None gnomAD-4.0.0 1.61254E-05
15092 62 A/V 144 None 0.0913 None gnomAD-4.0.0 1.59387E-06
15093 63 H/P 145 rs1275555058 0.3945 None gnomAD-4.0.0 1.59382E-06
15093 63 H/Y 145 None 0.3945 None gnomAD-4.0.0 6.84689E-07
15094 64 L/F 146 None 0.5922 None gnomAD-4.0.0 1.59388E-06
15094 64 L/I 146 rs1281104886 0.5922 None gnomAD-2.1.1 4.03E-06
15094 64 L/I 146 rs1281104886 0.5922 None gnomAD-3.1.2 6.59E-06
15094 64 L/I 146 rs1281104886 0.5922 None gnomAD-4.0.0 3.84945E-06
15094 64 L/V 146 rs1281104886 0.5922 None gnomAD-3.1.2 6.59E-06
15094 64 L/V 146 rs1281104886 0.5922 None gnomAD-4.0.0 6.58701E-06
15095 65 E/K 148 rs2154212024 0.6282 None gnomAD-4.0.0 1.59392E-06
15095 65 E/Q 148 None 0.6282 None gnomAD-4.0.0 1.59392E-06
15097 67 A/G 151 None 0.3042 None gnomAD-4.0.0 6.84701E-07
15097 67 A/V 151 rs555033060 0.3042 None gnomAD-4.0.0 6.84701E-07
15099 69 N/K 153 rs746107267 0.5881 None gnomAD-2.1.1 8.07E-06
15099 69 N/K 153 rs746107267 0.5881 None gnomAD-3.1.2 6.58E-06
15099 69 N/K 153 rs746107267 0.5881 None gnomAD-4.0.0 2.73895E-06
15099 69 N/S 153 rs1239591907 0.5881 None gnomAD-2.1.1 4.03E-06
15099 69 N/S 153 rs1239591907 0.5881 None gnomAD-3.1.2 1.32E-05
15099 69 N/S 153 rs1239591907 0.5881 None gnomAD-4.0.0 5.13279E-06
15100 70 Y/C 154 None 0.1302 None gnomAD-4.0.0 2.40064E-06
15101 71 N/H 155 rs879050695 0.1423 None gnomAD-4.0.0 3.42364E-06
15101 71 N/K 155 None 0.1423 None gnomAD-4.0.0 2.40064E-06
15101 71 N/S 155 None 0.1423 None gnomAD-4.0.0 6.8472E-07
15101 71 N/T 155 None 0.1423 None gnomAD-4.0.0 6.8472E-07
15102 72 C/Y 156 None 0.0583 None gnomAD-4.0.0 1.20032E-06
15103 73 R/G 157 None 0.2359 None gnomAD-4.0.0 6.84742E-07
15103 73 R/L 157 rs771113343 0.2359 None gnomAD-4.0.0 1.5941E-06
15103 73 R/Q 157 rs771113343 0.2359 None gnomAD-2.1.1 4.03E-06
15103 73 R/Q 157 rs771113343 0.2359 None gnomAD-3.1.2 1.32E-05
15103 73 R/Q 157 rs771113343 0.2359 None gnomAD-4.0.0 5.13373E-06
15104 74 L/F 158 rs370782950 0.1424 None gnomAD-2.1.1 8.07E-06
15104 74 L/F 158 rs370782950 0.1424 None gnomAD-3.1.2 1.32E-05
15104 74 L/F 158 rs370782950 0.1424 None gnomAD-4.0.0 4.34152E-06
15104 74 L/P 158 rs778421383 0.1424 None gnomAD-2.1.1 4.03E-06
15104 74 L/P 158 rs778421383 0.1424 None gnomAD-3.1.2 6.59E-06
15104 74 L/P 158 rs778421383 0.1424 None gnomAD-4.0.0 1.86075E-06
15105 75 P/R 159 None 0.8444 None gnomAD-4.0.0 1.59408E-06
15106 76 S/G 161 None 0.7393 None gnomAD-4.0.0 1.59412E-06
15106 76 S/R 161 rs756694133 0.7393 None gnomAD-2.1.1 8.07E-06
15106 76 S/R 161 rs756694133 0.7393 None gnomAD-4.0.0 4.78231E-06
15106 76 S/T 161 None 0.7393 None gnomAD-4.0.0 1.59412E-06
15107 77 S/P 162 rs1236004974 0.2681 None gnomAD-4.0.0 1.59408E-06
15107 77 S/T 162 None 0.2681 None gnomAD-4.0.0 1.59408E-06
15108 78 R/P 163 rs781435431 0.5292 None gnomAD-2.1.1 8.07E-06
15108 78 R/P 163 rs781435431 0.5292 None gnomAD-4.0.0 2.46512E-05
15108 78 R/Q 163 rs781435431 0.5292 None gnomAD-2.1.1 2.02E-05
15108 78 R/Q 163 rs781435431 0.5292 None gnomAD-4.0.0 2.53359E-05
15109 79 T/N 170 rs1199095857 0.1047 None gnomAD-3.1.2 6.59E-06
15109 79 T/N 170 rs1199095857 0.1047 None gnomAD-4.0.0 6.58614E-06
15110 80 D/N 171 rs17354992 0.4844 None gnomAD-2.1.1 7.95716E-03
15110 80 D/N 171 rs17354992 0.4844 None gnomAD-3.1.2 6.79528E-03
15110 80 D/N 171 rs17354992 0.4844 None 1000 genomes 2.99521E-03
15110 80 D/N 171 rs17354992 0.4844 None gnomAD-4.0.0 7.5279E-03
15111 81 G/D 172 rs1411341160 0.1672 None gnomAD-3.1.2 6.58E-06
15111 81 G/D 172 rs1411341160 0.1672 None gnomAD-4.0.0 6.58493E-06
15111 81 G/S 172 None 0.1672 None gnomAD-4.0.0 1.20032E-06
15112 82 K/R 173 None 0.5037 None gnomAD-4.0.0 1.59441E-06
15113 83 V/A 174 rs794729437 0.1271 None gnomAD-2.1.1 4.04E-06
15113 83 V/A 174 rs794729437 0.1271 None gnomAD-3.1.2 6.58E-06
15113 83 V/A 174 rs794729437 0.1271 None gnomAD-4.0.0 3.85094E-06
15116 86 H/R 178 rs1413491989 0.5836 None gnomAD-2.1.1 4.04E-06
15116 86 H/R 178 rs1413491989 0.5836 None gnomAD-4.0.0 3.42425E-06
15116 86 H/Y 178 None 0.5836 None gnomAD-4.0.0 1.20032E-06