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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
6012 1 P/L 1 None 0.1402 None gnomAD-4.0.0 1.38655E-06
6012 1 P/S 1 None 0.1402 None gnomAD-4.0.0 2.81545E-06
6012 1 P/T 1 None 0.1402 None gnomAD-4.0.0 7.03863E-07
6013 2 Y/H 2 rs548015673 0.4146 None gnomAD-2.1.1 5.15E-05
6013 2 Y/H 2 rs548015673 0.4146 None gnomAD-3.1.2 5.26E-05
6013 2 Y/H 2 rs548015673 0.4146 None 1000 genomes 1.99681E-04
6013 2 Y/H 2 rs548015673 0.4146 None gnomAD-4.0.0 1.17805E-04
6014 3 F/S 3 None 0.1819 None gnomAD-4.0.0 1.62806E-06
6015 4 V/M 4 rs753892185 0.4181 None gnomAD-2.1.1 4.23E-06
6015 4 V/M 4 rs753892185 0.4181 None gnomAD-4.0.0 1.37766E-06
6016 5 E/D 5 None 0.5904 None gnomAD-4.0.0 1.61325E-06
6017 6 K/N 7 rs1307209932 0.6089 None gnomAD-4.0.0 3.22571E-06
6021 10 Q/E 13 rs1302820509 0.3273 None gnomAD-2.1.1 4.15E-06
6021 10 Q/E 13 rs1302820509 0.3273 None gnomAD-4.0.0 1.6055E-06
6021 10 Q/H 13 rs752853744 0.3273 None gnomAD-2.1.1 4.14E-06
6021 10 Q/H 13 rs752853744 0.3273 None gnomAD-4.0.0 2.06005E-06
6022 11 D/N 14 rs767465221 0.6456 None gnomAD-2.1.1 4.14E-06
6022 11 D/N 14 rs767465221 0.6456 None gnomAD-4.0.0 1.60502E-06
6023 12 V/A 16 rs1037108046 0.1782 None gnomAD-2.1.1 7.33E-06
6023 12 V/A 16 rs1037108046 0.1782 None gnomAD-3.1.2 2.63E-05
6023 12 V/A 16 rs1037108046 0.1782 None gnomAD-4.0.0 2.23812E-05
6023 12 V/F 16 rs2080216835 0.1782 None gnomAD-4.0.0 6.86678E-07
6024 13 N/D 18 None 0.6563 None gnomAD-4.0.0 1.20032E-06
6024 13 N/S 18 rs759852969 0.6563 None gnomAD-2.1.1 5.35E-05
6024 13 N/S 18 rs759852969 0.6563 None gnomAD-3.1.2 6.57E-06
6024 13 N/S 18 rs759852969 0.6563 None gnomAD-4.0.0 3.66371E-05
6026 15 N/S 24 None 0.7338 None gnomAD-4.0.0 1.20032E-06
6028 17 R/G 26 rs766799309 0.3755 None gnomAD-2.1.1 4.11E-06
6028 17 R/G 26 rs766799309 0.3755 None gnomAD-4.0.0 2.05599E-06
6028 17 R/K 26 rs552189742 0.3755 None gnomAD-2.1.1 4.11E-06
6028 17 R/K 26 rs552189742 0.3755 None gnomAD-3.1.2 1.32E-05
6028 17 R/K 26 rs552189742 0.3755 None 1000 genomes 3.99361E-04
6028 17 R/K 26 rs552189742 0.3755 None gnomAD-4.0.0 1.31404E-05
6028 17 R/S 26 rs775372762 0.3755 None gnomAD-2.1.1 4.11E-06
6028 17 R/T 26 rs552189742 0.3755 None gnomAD-3.1.2 6.58E-06
6028 17 R/T 26 rs552189742 0.3755 None gnomAD-4.0.0 6.57531E-06
6029 18 V/G 28 rs770360579 0.1746 None gnomAD-2.1.1 4.11E-06
6029 18 V/G 28 rs770360579 0.1746 None gnomAD-4.0.0 1.59723E-06
6029 18 V/I 28 rs1274174149 0.1746 None gnomAD-3.1.2 6.58E-06
6029 18 V/I 28 rs1274174149 0.1746 None gnomAD-4.0.0 6.57635E-06
6029 18 V/L 28 None 0.1746 None gnomAD-4.0.0 6.85255E-07
6030 19 Q/E 29 None 0.3634 None gnomAD-4.0.0 1.59729E-06
6030 19 Q/R 29 rs1560784359 0.3634 None gnomAD-4.0.0 6.16735E-06
6031 20 L/F 30 rs775101958 0.1509 None gnomAD-2.1.1 4.09E-06
6031 20 L/F 30 rs775101958 0.1509 None gnomAD-4.0.0 1.59601E-06
6031 20 L/I 30 None 0.1509 None gnomAD-4.0.0 4.79587E-06
6032 21 K/N 31 None 0.4552 None gnomAD-4.0.0 6.85103E-07
6033 22 A/G 33 rs771457862 0.1208 None gnomAD-2.1.1 4.09E-06
6033 22 A/G 33 rs771457862 0.1208 None gnomAD-4.0.0 1.59626E-06
6033 22 A/P 33 None 0.1208 None gnomAD-4.0.0 6.85132E-07
6033 22 A/T 33 None 0.1208 None gnomAD-4.0.0 6.85132E-07
6033 22 A/V 33 rs771457862 0.1208 None gnomAD-3.1.2 6.57E-06
6033 22 A/V 33 rs771457862 0.1208 None gnomAD-4.0.0 6.57454E-06
6034 23 L/H 34 None 0.3424 None gnomAD-4.0.0 6.8506E-07
6034 23 L/P 34 None 0.3424 None gnomAD-4.0.0 6.8506E-07
6035 24 V/A 35 rs1207028301 0.1328 None gnomAD-2.1.1 4.08E-06
6035 24 V/A 35 rs1207028301 0.1328 None gnomAD-4.0.0 1.5956E-06
6035 24 V/L 35 rs909868763 0.1328 None gnomAD-4.0.0 6.85042E-07
6035 24 V/M 35 rs909868763 0.1328 None gnomAD-4.0.0 1.37008E-06
6036 25 G/C 38 None 0.1676 None gnomAD-4.0.0 1.59572E-06
6036 25 G/R 38 rs1308477986 0.1676 None gnomAD-2.1.1 4.08E-06
6036 25 G/R 38 rs1308477986 0.1676 None gnomAD-4.0.0 1.59572E-06
6036 25 G/V 38 None 0.1676 None gnomAD-4.0.0 1.20032E-06
6037 26 G/S 40 rs377578914 0.2554 None gnomAD-2.1.1 4.08E-06
6037 26 G/S 40 rs377578914 0.2554 None gnomAD-3.1.2 1.31E-05
6037 26 G/S 40 rs377578914 0.2554 None gnomAD-4.0.0 3.72169E-06
6040 29 P/S 43 None 0.8642 None gnomAD-4.0.0 6.84735E-07
6040 29 P/T 43 None 0.8642 None gnomAD-4.0.0 1.36947E-06
6041 30 M/K 44 None 0.2202 None gnomAD-4.0.0 3.18735E-06
6041 30 M/V 44 rs756902355 0.2202 None gnomAD-2.1.1 7.2E-06
6041 30 M/V 44 rs756902355 0.2202 None gnomAD-3.1.2 6.57E-06
6041 30 M/V 44 rs756902355 0.2202 None gnomAD-4.0.0 2.5655E-06
6042 31 T/I 45 None 0.5667 None gnomAD-4.0.0 6.84621E-07
6043 32 I/R 46 rs1395649449 0.1752 None gnomAD-2.1.1 4.05E-06
6043 32 I/R 46 rs1395649449 0.1752 None gnomAD-4.0.0 1.5933E-06
6043 32 I/V 46 rs1390946265 0.1752 None gnomAD-2.1.1 1.8E-05
6043 32 I/V 46 rs1390946265 0.1752 None gnomAD-3.1.2 1.31E-05
6043 32 I/V 46 rs1390946265 0.1752 None gnomAD-4.0.0 6.20014E-06
6044 33 K/N 47 rs749108620 0.3455 None gnomAD-2.1.1 4.05E-06
6044 33 K/N 47 rs749108620 0.3455 None gnomAD-4.0.0 1.5931E-06
6044 33 K/Q 47 rs1560783710 0.3455 None gnomAD-2.1.1 3.19E-05
6044 33 K/Q 47 rs1560783710 0.3455 None gnomAD-3.1.2 6.57E-06
6044 33 K/Q 47 rs1560783710 0.3455 None gnomAD-4.0.0 6.57358E-06
6044 33 K/T 47 rs2080198775 0.3455 None gnomAD-4.0.0 1.59318E-06
6045 34 W/C 48 rs1463290209 0.1391 None gnomAD-2.1.1 4.04E-06
6045 34 W/C 48 rs1463290209 0.1391 None gnomAD-4.0.0 6.84509E-07
6046 35 F/L 49 None 0.1704 None gnomAD-4.0.0 1.59284E-06
6048 37 D/G 51 rs1400771825 0.6362 None gnomAD-2.1.1 4.04E-06
6048 37 D/G 51 rs1400771825 0.6362 None gnomAD-4.0.0 3.18501E-06
6050 39 K/E 55 None 0.7318 None gnomAD-4.0.0 6.8442E-07
6050 39 K/Q 55 rs2080195973 0.7318 None gnomAD-4.0.0 6.8442E-07
6051 40 E/D 56 None 0.2360 None gnomAD-4.0.0 1.59239E-06
6051 40 E/K 56 rs532089368 0.2360 None gnomAD-2.1.1 4.04E-06
6051 40 E/K 56 rs532089368 0.2360 None gnomAD-3.1.2 6.57E-06
6051 40 E/K 56 rs532089368 0.2360 None 1000 genomes 1.99681E-04
6051 40 E/K 56 rs532089368 0.2360 None gnomAD-4.0.0 2.56354E-06
6053 42 H/N 59 None 0.6028 None gnomAD-4.0.0 6.84406E-07
6053 42 H/Q 59 None 0.6028 None gnomAD-4.0.0 4.10632E-06
6055 44 G/E 73 rs879034244 0.3901 None gnomAD-4.0.0 2.7375E-06
6058 47 R/C 121 rs189127014 0.3110 None gnomAD-2.1.1 1.71635E-04
6058 47 R/C 121 rs189127014 0.3110 None gnomAD-3.1.2 4.73653E-04
6058 47 R/C 121 rs189127014 0.3110 None gnomAD-4.0.0 9.91744E-05
6058 47 R/H 121 rs376012117 0.3110 None gnomAD-2.1.1 6.08E-05
6058 47 R/H 121 rs376012117 0.3110 None gnomAD-3.1.2 3.95E-05
6058 47 R/H 121 rs376012117 0.3110 None gnomAD-4.0.0 3.59504E-05
6058 47 R/L 121 rs376012117 0.3110 None gnomAD-2.1.1 8.06E-06
6058 47 R/L 121 rs376012117 0.3110 None gnomAD-4.0.0 2.05315E-06
6059 48 S/L 122 None 0.2407 None gnomAD-4.0.0 2.05306E-06
6061 50 W/L 125 rs763108996 0.5255 None gnomAD-2.1.1 4.03E-06
6062 51 K/N 127 rs56050216 0.4048 None gnomAD-4.0.0 1.592E-06
6063 52 D/G 130 None 0.2525 None gnomAD-4.0.0 1.59195E-06
6064 53 D/H 131 rs750822862 0.7504 None gnomAD-2.1.1 7.15E-06
6064 53 D/H 131 rs750822862 0.7504 None gnomAD-3.1.2 1.31E-05
6064 53 D/H 131 rs750822862 0.7504 None gnomAD-4.0.0 3.8449E-06
6065 54 T/A 134 None 0.4701 None gnomAD-4.0.0 1.20032E-06
6065 54 T/N 134 None 0.4701 None gnomAD-4.0.0 1.20032E-06
6066 55 S/C 135 rs762434229 0.1509 None gnomAD-3.1.2 6.57E-06
6066 55 S/C 135 rs762434229 0.1509 None gnomAD-4.0.0 1.85947E-06
6066 55 S/F 135 rs762434229 0.1509 None gnomAD-2.1.1 3.22E-05
6066 55 S/F 135 rs762434229 0.1509 None gnomAD-3.1.2 1.31E-05
6066 55 S/F 135 rs762434229 0.1509 None gnomAD-4.0.0 6.19824E-06
6067 56 T/I 136 None 0.1350 None gnomAD-4.0.0 1.59199E-06
6068 57 S/T 137 None 0.1626 None gnomAD-4.0.0 1.20032E-06
6069 58 L/I 138 None 0.1061 None gnomAD-4.0.0 1.59197E-06
6069 58 L/P 138 None 0.1061 None gnomAD-4.0.0 1.59197E-06
6070 59 E/Q 139 rs1238374094 0.2033 None gnomAD-2.1.1 4.03E-06
6070 59 E/Q 139 rs1238374094 0.2033 None gnomAD-4.0.0 1.59202E-06
6071 60 L/R 140 None 0.1857 None gnomAD-4.0.0 1.20032E-06
6074 63 A/T 144 None 0.1158 None gnomAD-4.0.0 1.36873E-06
6075 64 K/T 145 None 0.6362 None gnomAD-4.0.0 1.20032E-06
6076 65 A/S 146 rs371110666 0.5071 None gnomAD-2.1.1 4.03E-06
6076 65 A/S 146 rs371110666 0.5071 None gnomAD-4.0.0 6.8435E-07
6076 65 A/T 146 None 0.5071 None gnomAD-4.0.0 1.3687E-06
6077 66 T/N 148 rs773941728 0.6961 None gnomAD-2.1.1 8.06E-06
6077 66 T/N 148 rs773941728 0.6961 None gnomAD-3.1.2 2.63E-05
6077 66 T/N 148 rs773941728 0.6961 None gnomAD-4.0.0 2.29344E-05
6078 67 D/N 149 rs748917636 0.2348 None gnomAD-2.1.1 2.5E-05
6078 67 D/N 149 rs748917636 0.2348 None gnomAD-3.1.2 2.63E-05
6078 67 D/N 149 rs748917636 0.2348 None gnomAD-4.0.0 1.42571E-05
6081 70 T/A 153 None 0.4192 None gnomAD-4.0.0 4.80129E-06
6082 71 Y/H 154 None 0.1490 None gnomAD-4.0.0 6.84412E-07
6082 71 Y/N 154 rs777671590 0.1490 None gnomAD-2.1.1 8.06E-06
6082 71 Y/N 154 rs777671590 0.1490 None gnomAD-4.0.0 2.05324E-06
6083 72 I/T 155 None 0.2944 None gnomAD-4.0.0 1.59216E-06
6083 72 I/V 155 rs374012753 0.2944 None gnomAD-2.1.1 2.02E-05
6083 72 I/V 155 rs374012753 0.2944 None gnomAD-3.1.2 1.32E-05
6083 72 I/V 155 rs374012753 0.2944 None gnomAD-4.0.0 1.7362E-05
6086 75 L/I 158 rs1160746683 0.0988 None gnomAD-2.1.1 1.21E-05
6086 75 L/I 158 rs1160746683 0.0988 None gnomAD-4.0.0 3.18523E-06
6086 75 L/V 158 None 0.0988 None gnomAD-4.0.0 1.59262E-06
6087 76 S/N 159 rs1270956493 0.2465 None gnomAD-3.1.2 6.59E-06
6087 76 S/N 159 rs1270956493 0.2465 None gnomAD-4.0.0 6.59457E-06
6088 77 N/K 161 rs748182054 0.1577 None gnomAD-2.1.1 3.19E-05
6089 78 D/E 162 rs754848806 0.6903 None gnomAD-2.1.1 2.02E-05
6089 78 D/E 162 rs754848806 0.6903 None gnomAD-3.1.2 4.6E-05
6089 78 D/E 162 rs754848806 0.6903 None gnomAD-4.0.0 3.90532E-05
6089 78 D/G 162 None 0.6903 None gnomAD-4.0.0 2.40065E-06
6089 78 D/N 162 rs560203827 0.6903 None gnomAD-2.1.1 7.26E-05
6089 78 D/N 162 rs560203827 0.6903 None gnomAD-3.1.2 4.01E-05
6089 78 D/N 162 rs560203827 0.6903 None 1000 genomes 1.99681E-04
6089 78 D/N 162 rs560203827 0.6903 None gnomAD-4.0.0 3.22188E-05
6091 80 G/S 164 rs890606784 0.2205 None gnomAD-2.1.1 4.04E-06
6091 80 G/S 164 rs890606784 0.2205 None gnomAD-3.1.2 6.57E-06
6091 80 G/S 164 rs890606784 0.2205 None gnomAD-4.0.0 2.56446E-06
6092 81 T/A 165 rs1257068599 0.6409 None gnomAD-2.1.1 4.04E-06
6092 81 T/A 165 rs1257068599 0.6409 None gnomAD-4.0.0 1.5929E-06
6092 81 T/R 165 None 0.6409 None gnomAD-4.0.0 1.59304E-06
6094 83 T/I 168 rs1315540030 0.5302 None gnomAD-2.1.1 3.19E-05
6094 83 T/I 168 rs1315540030 0.5302 None gnomAD-3.1.2 6.57E-06
6094 83 T/I 168 rs1315540030 0.5302 None gnomAD-4.0.0 2.02997E-06
6095 84 S/I 169 None 0.1454 None gnomAD-4.0.0 7.34788E-07
6095 84 S/N 169 None 0.1454 None gnomAD-4.0.0 2.93915E-06
6097 86 A/G 172 None 0.1275 None gnomAD-4.0.0 6.8493E-07
6097 86 A/T 172 rs780063658 0.1275 None gnomAD-2.1.1 4.05E-06
6097 86 A/T 172 rs780063658 0.1275 None gnomAD-4.0.0 2.10184E-06
6097 86 A/V 172 rs758663081 0.1275 None gnomAD-2.1.1 4.05E-06
6097 86 A/V 172 rs758663081 0.1275 None gnomAD-3.1.2 1.32E-05
6097 86 A/V 172 rs758663081 0.1275 None gnomAD-4.0.0 3.72194E-06
6098 87 T/A 173 rs727505140 0.4412 None gnomAD-2.1.1 4.05E-06
6098 87 T/A 173 rs727505140 0.4412 None gnomAD-3.1.2 1.39E-05
6098 87 T/A 173 rs727505140 0.4412 None gnomAD-4.0.0 3.89601E-06
6098 87 T/I 173 rs765693409 0.4412 None gnomAD-2.1.1 8.1E-06
6098 87 T/I 173 rs765693409 0.4412 None gnomAD-4.0.0 3.20101E-06
6098 87 T/S 173 rs765693409 0.4412 None gnomAD-4.0.0 1.60051E-06
6099 88 L/F 174 rs370109572 0.1415 None gnomAD-2.1.1 5.39E-05
6099 88 L/F 174 rs370109572 0.1415 None gnomAD-3.1.2 6.68E-05
6099 88 L/F 174 rs370109572 0.1415 None gnomAD-4.0.0 8.05698E-05
6099 88 L/V 174 rs370109572 0.1415 None gnomAD-2.1.1 4.05E-06
6099 88 L/V 174 rs370109572 0.1415 None gnomAD-3.1.2 6.68E-06
6099 88 L/V 174 rs370109572 0.1415 None gnomAD-4.0.0 1.88836E-06
6100 89 F/S 175 rs761215282 0.4940 None gnomAD-2.1.1 8.12E-06
6100 89 F/S 175 rs761215282 0.4940 None gnomAD-3.1.2 1.32E-05
6100 89 F/S 175 rs761215282 0.4940 None gnomAD-4.0.0 6.20729E-06
6101 90 V/L 177 None 0.1210 None gnomAD-4.0.0 1.20032E-06