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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
6761 1 P/H 1 None 0.0919 None gnomAD-4.0.0 7.38886E-07
6761 1 P/L 1 None 0.0919 None gnomAD-4.0.0 7.38886E-07
6761 1 P/S 1 None 0.0919 None gnomAD-4.0.0 6.63649E-06
6761 1 P/T 1 None 0.0919 None gnomAD-4.0.0 7.37388E-07
6764 4 S/I 4 None 0.4029 None gnomAD-4.0.0 1.86695E-06
6764 4 S/N 4 rs1030649234 0.4029 None gnomAD-3.1.2 6.57E-06
6764 4 S/N 4 rs1030649234 0.4029 None gnomAD-4.0.0 6.57479E-06
6764 4 S/R 4 None 0.4029 None gnomAD-4.0.0 7.30962E-07
6766 6 F/L 7 None 0.3057 None gnomAD-4.0.0 1.80926E-06
6767 7 P/H 8 rs766549840 0.2722 None gnomAD-2.1.1 4.46E-05
6767 7 P/H 8 rs766549840 0.2722 None gnomAD-3.1.2 1.97E-05
6767 7 P/H 8 rs766549840 0.2722 None gnomAD-4.0.0 2.47428E-05
6767 7 P/S 8 rs1322204022 0.2722 None gnomAD-3.1.2 6.58E-06
6767 7 P/S 8 rs1322204022 0.2722 None gnomAD-4.0.0 1.95822E-06
6768 8 P/S 9 None 0.4715 None gnomAD-4.0.0 5.76205E-06
6769 9 I/T 11 None 0.4587 None gnomAD-4.0.0 1.76423E-06
6769 9 I/V 11 rs1212523290 0.4587 None gnomAD-2.1.1 9.29E-06
6769 9 I/V 11 rs1212523290 0.4587 None gnomAD-3.1.2 6.57E-06
6769 9 I/V 11 rs1212523290 0.4587 None gnomAD-4.0.0 1.2245E-05
6770 10 V/A 13 None 0.2767 None gnomAD-4.0.0 1.74383E-06
6770 10 V/I 13 None 0.2767 None gnomAD-4.0.0 7.12211E-07
6770 10 V/L 13 None 0.2767 None gnomAD-4.0.0 2.84884E-06
6771 11 E/Q 14 rs750614578 0.5256 None gnomAD-2.1.1 8.75E-06
6771 11 E/Q 14 rs750614578 0.5256 None gnomAD-4.0.0 2.81713E-06
6772 12 T/N 16 rs765440640 0.1596 None gnomAD-2.1.1 4.31E-06
6772 12 T/N 16 rs765440640 0.1596 None gnomAD-3.1.2 6.57E-06
6772 12 T/N 16 rs765440640 0.1596 None gnomAD-4.0.0 1.26378E-06
6772 12 T/S 16 rs765440640 0.1596 None gnomAD-2.1.1 1.72E-05
6772 12 T/S 16 rs765440640 0.1596 None gnomAD-3.1.2 6.57E-06
6772 12 T/S 16 rs765440640 0.1596 None gnomAD-4.0.0 4.42321E-06
6773 13 L/F 18 rs189557659 0.6878 None gnomAD-3.1.2 1.97E-05
6773 13 L/F 18 rs189557659 0.6878 None 1000 genomes 1.99681E-04
6773 13 L/F 18 rs189557659 0.6878 None gnomAD-4.0.0 3.28221E-05
6773 13 L/P 18 rs1327286420 0.6878 None gnomAD-4.0.0 1.64061E-06
6774 14 K/R 23 rs776943120 0.6084 None gnomAD-2.1.1 4.21E-06
6774 14 K/R 23 rs776943120 0.6084 None gnomAD-3.1.2 1.97E-05
6774 14 K/R 23 rs776943120 0.6084 None gnomAD-4.0.0 3.13377E-06
6774 14 K/T 23 None 0.6084 None gnomAD-4.0.0 6.92817E-07
6775 15 N/S 24 None 0.5908 None gnomAD-4.0.0 1.20032E-06
6776 16 A/T 25 rs886055295 0.2102 None gnomAD-4.0.0 4.83792E-06
6776 16 A/V 25 rs200031306 0.2102 None gnomAD-2.1.1 1.67E-05
6776 16 A/V 25 rs200031306 0.2102 None gnomAD-3.1.2 1.32E-05
6776 16 A/V 25 rs200031306 0.2102 None gnomAD-4.0.0 2.8147E-05
6777 17 E/Q 26 rs761148465 0.5195 None gnomAD-2.1.1 3.75E-05
6777 17 E/Q 26 rs761148465 0.5195 None gnomAD-4.0.0 1.46414E-05
6779 19 S/C 29 rs149470241 0.3822 None gnomAD-2.1.1 5.7142E-04
6779 19 S/C 29 rs149470241 0.3822 None gnomAD-3.1.2 5.9811E-04
6779 19 S/C 29 rs149470241 0.3822 None 1000 genomes 1.99681E-04
6779 19 S/C 29 rs149470241 0.3822 None gnomAD-4.0.0 1.53006E-03
6781 21 E/A 31 None 0.4938 None gnomAD-4.0.0 3.20496E-06
6781 21 E/K 31 rs72648958 0.4938 None gnomAD-2.1.1 9.93871E-04
6781 21 E/K 31 rs72648958 0.4938 None gnomAD-3.1.2 1.16377E-03
6781 21 E/K 31 rs72648958 0.4938 None 1000 genomes 1.99681E-04
6781 21 E/K 31 rs72648958 0.4938 None gnomAD-4.0.0 2.09579E-03
6781 21 E/Q 31 rs72648958 0.4938 None gnomAD-2.1.1 4.08E-06
6781 21 E/Q 31 rs72648958 0.4938 None gnomAD-4.0.0 1.37384E-06
6782 22 C/R 33 rs748769034 0.0732 None gnomAD-4.0.0 6.86143E-07
6782 22 C/Y 33 rs1193444668 0.0732 None gnomAD-2.1.1 4.06E-06
6782 22 C/Y 33 rs1193444668 0.0732 None gnomAD-3.1.2 6.57E-06
6782 22 C/Y 33 rs1193444668 0.0732 None gnomAD-4.0.0 2.57643E-06
6783 23 E/V 34 None 0.3553 None gnomAD-4.0.0 1.37092E-06
6784 24 L/F 35 None 0.0878 None gnomAD-4.0.0 1.37097E-06
6785 25 S/L 38 rs201586695 0.3062 None gnomAD-2.1.1 1.22105E-04
6785 25 S/L 38 rs201586695 0.3062 None gnomAD-3.1.2 6.58E-05
6785 25 S/L 38 rs201586695 0.3062 None 1000 genomes 3.99361E-04
6785 25 S/L 38 rs201586695 0.3062 None gnomAD-4.0.0 7.50911E-05
6785 25 S/W 38 rs201586695 0.3062 None gnomAD-2.1.1 4.05E-06
6786 26 G/E 40 None 0.1455 None gnomAD-4.0.0 1.59698E-06
6786 26 G/R 40 rs1191785544 0.1455 None gnomAD-2.1.1 4.05E-06
6786 26 G/R 40 rs1191785544 0.1455 None gnomAD-3.1.2 6.58E-06
6786 26 G/R 40 rs1191785544 0.1455 None gnomAD-4.0.0 2.57061E-06
6787 27 T/I 41 None 0.2475 None gnomAD-4.0.0 1.59677E-06
6787 27 T/S 41 None 0.2475 None gnomAD-4.0.0 2.05521E-06
6788 28 P/L 42 None 0.2791 None gnomAD-4.0.0 6.84992E-07
6788 28 P/T 42 rs2154304599 0.2791 None gnomAD-4.0.0 3.42457E-06
6789 29 P/L 43 rs1480351925 0.7875 None gnomAD-2.1.1 4.04E-06
6789 29 P/L 43 rs1480351925 0.7875 None gnomAD-4.0.0 1.02734E-05
6790 30 F/L 44 None 0.1773 None gnomAD-4.0.0 4.78245E-06
6793 33 V/I 47 rs2079262565 0.2179 None gnomAD-4.0.0 1.20032E-06
6795 35 Y/H 49 None 0.2500 None gnomAD-4.0.0 2.40064E-06
6797 37 D/E 51 rs755018617 0.6403 None gnomAD-2.1.1 4.03E-06
6797 37 D/E 51 rs755018617 0.6403 None gnomAD-4.0.0 3.18613E-06
6799 39 R/Q 55 rs780069933 0.6958 None gnomAD-2.1.1 8.06E-06
6799 39 R/Q 55 rs780069933 0.6958 None gnomAD-4.0.0 2.73816E-05
6799 39 R/W 55 rs751534449 0.6958 None gnomAD-2.1.1 2.42E-05
6799 39 R/W 55 rs751534449 0.6958 None gnomAD-3.1.2 6.58E-06
6799 39 R/W 55 rs751534449 0.6958 None gnomAD-4.0.0 2.29416E-05
6800 40 Q/H 56 None 0.3781 None gnomAD-4.0.0 1.59296E-06
6800 40 Q/K 56 rs1345237907 0.3781 None gnomAD-2.1.1 4.03E-06
6800 40 Q/K 56 rs1345237907 0.3781 None gnomAD-4.0.0 1.59305E-06
6800 40 Q/P 56 None 0.3781 None gnomAD-4.0.0 1.59297E-06
6801 41 L/H 58 None 0.1436 None gnomAD-4.0.0 3.18587E-06
6803 43 S/I 70 rs2079258083 0.4408 None gnomAD-3.1.2 6.58E-06
6803 43 S/I 70 rs2079258083 0.4408 None gnomAD-4.0.0 6.57618E-06
6806 46 K/N 115 rs768932465 0.1473 None gnomAD-2.1.1 1.00171E-04
6806 46 K/N 115 rs768932465 0.1473 None gnomAD-3.1.2 8.54E-05
6806 46 K/N 115 rs768932465 0.1473 None gnomAD-4.0.0 9.91814E-05
6806 46 K/T 115 None 0.1473 None gnomAD-4.0.0 1.59285E-06
6807 47 Y/H 121 None 0.1890 None gnomAD-4.0.0 1.36897E-06
6808 48 K/T 122 None 0.4471 None gnomAD-4.0.0 2.40064E-06
6809 49 I/F 123 None 0.2256 None gnomAD-4.0.0 1.59281E-06
6809 49 I/T 123 rs879197315 0.2256 None gnomAD-2.1.1 3.19E-05
6809 49 I/T 123 rs879197315 0.2256 None gnomAD-3.1.2 3.29E-05
6809 49 I/T 123 rs879197315 0.2256 None gnomAD-4.0.0 6.19994E-06
6810 50 A/T 125 None 0.4130 None gnomAD-4.0.0 6.84492E-07
6811 51 S/P 127 None 0.4546 None gnomAD-4.0.0 1.20032E-06
6813 53 N/H 131 None 0.5800 None gnomAD-4.0.0 1.59261E-06
6814 54 F/L 134 rs1371961339 0.3548 None gnomAD-4.0.0 1.59269E-06
6814 54 F/V 134 rs1371961339 0.3548 None gnomAD-4.0.0 1.59269E-06
6815 55 H/Y 135 None 0.3161 None gnomAD-4.0.0 1.5927E-06
6816 56 T/K 136 rs1203777125 0.1025 None gnomAD-4.0.0 4.77777E-06
6817 57 S/G 137 None 0.1715 None gnomAD-4.0.0 1.20032E-06
6817 57 S/I 137 rs757470877 0.1715 None gnomAD-2.1.1 4.03E-06
6817 57 S/I 137 rs757470877 0.1715 None gnomAD-3.1.2 1.97E-05
6817 57 S/I 137 rs757470877 0.1715 None gnomAD-4.0.0 8.97424E-06
6818 58 I/T 138 rs1371747838 0.0565 None gnomAD-2.1.1 4.03E-06
6818 58 I/T 138 rs1371747838 0.0565 None gnomAD-4.0.0 1.36887E-06
6818 58 I/V 138 rs2079253032 0.0565 None gnomAD-4.0.0 7.96229E-06
6821 61 L/R 141 None 0.3322 None gnomAD-4.0.0 1.5925E-06
6822 62 N/H 143 None 0.7203 None gnomAD-4.0.0 6.84645E-07
6822 62 N/K 143 None 0.7203 None gnomAD-4.0.0 3.18487E-06
6822 62 N/S 143 rs371518764 0.7203 None gnomAD-2.1.1 3.57E-05
6822 62 N/S 143 rs371518764 0.7203 None gnomAD-3.1.2 7.23E-05
6822 62 N/S 143 rs371518764 0.7203 None gnomAD-4.0.0 6.63262E-05
6822 62 N/T 143 rs371518764 0.7203 None gnomAD-2.1.1 4.02E-06
6822 62 N/T 143 rs371518764 0.7203 None gnomAD-4.0.0 6.8443E-07
6823 63 V/E 144 None 0.1048 None gnomAD-4.0.0 6.8443E-07
6823 63 V/G 144 rs529417675 0.1048 None gnomAD-2.1.1 2.01E-05
6823 63 V/G 144 rs529417675 0.1048 None gnomAD-3.1.2 6.57E-06
6823 63 V/G 144 rs529417675 0.1048 None 1000 genomes 3.99361E-04
6823 63 V/G 144 rs529417675 0.1048 None gnomAD-4.0.0 1.17767E-05
6823 63 V/M 144 None 0.1048 None gnomAD-4.0.0 1.20032E-06
6824 64 D/E 145 rs1418781337 0.3035 None gnomAD-2.1.1 4.03E-06
6824 64 D/E 145 rs1418781337 0.3035 None gnomAD-4.0.0 6.84434E-06
6824 64 D/N 145 rs1177053668 0.3035 None gnomAD-2.1.1 1.21E-05
6824 64 D/N 145 rs1177053668 0.3035 None gnomAD-3.1.2 6.57E-06
6824 64 D/N 145 rs1177053668 0.3035 None gnomAD-4.0.0 7.6917E-06
6824 64 D/Y 145 rs1177053668 0.3035 None gnomAD-2.1.1 4.03E-06
6824 64 D/Y 145 rs1177053668 0.3035 None gnomAD-4.0.0 1.5925E-06
6825 65 T/A 146 rs1405860500 0.6913 None gnomAD-2.1.1 4.03E-06
6825 65 T/I 146 rs763006525 0.6913 None gnomAD-2.1.1 2.01E-05
6825 65 T/I 146 rs763006525 0.6913 None gnomAD-3.1.2 3.29E-05
6825 65 T/I 146 rs763006525 0.6913 None gnomAD-4.0.0 3.40939E-05
6827 67 D/E 149 rs368033114 0.1194 None gnomAD-2.1.1 8.05E-06
6827 67 D/E 149 rs368033114 0.1194 None gnomAD-4.0.0 6.84449E-06
6827 67 D/G 149 rs911478772 0.1194 None gnomAD-3.1.2 1.31E-05
6827 67 D/G 149 rs911478772 0.1194 None gnomAD-4.0.0 1.42092E-05
6828 68 I/T 151 None 0.2232 None gnomAD-4.0.0 2.40065E-06
6828 68 I/V 151 rs1432785096 0.2232 None gnomAD-2.1.1 6.37E-05
6828 68 I/V 151 rs1432785096 0.2232 None gnomAD-3.1.2 6.57E-06
6828 68 I/V 151 rs1432785096 0.2232 None gnomAD-4.0.0 3.0995E-06
6829 69 G/D 152 rs1173268612 0.2225 None gnomAD-3.1.2 6.58E-06
6829 69 G/D 152 rs1173268612 0.2225 None gnomAD-4.0.0 2.5647E-06
6829 69 G/S 152 rs139549363 0.2225 None gnomAD-2.1.1 1.79E-05
6829 69 G/S 152 rs139549363 0.2225 None gnomAD-3.1.2 9.86E-05
6829 69 G/S 152 rs139549363 0.2225 None 1000 genomes 1.99681E-04
6829 69 G/S 152 rs139549363 0.2225 None gnomAD-4.0.0 1.42589E-05
6830 70 E/K 153 rs1458416906 0.5224 None gnomAD-2.1.1 3.19E-05
6830 70 E/K 153 rs1458416906 0.5224 None gnomAD-3.1.2 6.57E-06
6830 70 E/K 153 rs1458416906 0.5224 None gnomAD-4.0.0 6.57272E-06
6831 71 Y/C 154 None 0.0986 None gnomAD-4.0.0 1.59302E-06
6833 73 C/R 156 None 0.0501 None gnomAD-4.0.0 1.20032E-06
6833 73 C/Y 156 rs2079243325 0.0501 None gnomAD-3.1.2 6.57E-06
6833 73 C/Y 156 rs2079243325 0.0501 None gnomAD-4.0.0 6.57237E-06
6834 74 K/N 157 None 0.3469 None gnomAD-4.0.0 1.20032E-06
6837 77 N/K 161 None 0.1529 None gnomAD-4.0.0 1.59745E-06
6839 79 V/L 163 None 0.1877 None gnomAD-4.0.0 1.60088E-06
6840 80 G/R 164 None 0.2125 None gnomAD-4.0.0 1.20032E-06
6840 80 G/V 164 rs1413034567 0.2125 None gnomAD-3.1.2 6.57E-06
6840 80 G/V 164 rs1413034567 0.2125 None gnomAD-4.0.0 6.57462E-06
6841 81 S/I 165 rs769764362 0.3579 None gnomAD-2.1.1 8.15E-06
6841 81 S/I 165 rs769764362 0.3579 None gnomAD-4.0.0 2.748E-06
6841 81 S/R 165 None 0.3579 None gnomAD-4.0.0 1.20032E-06
6842 82 D/G 166 rs747784796 0.2387 None gnomAD-2.1.1 2.04E-05
6842 82 D/G 166 rs747784796 0.2387 None gnomAD-4.0.0 1.37473E-05
6842 82 D/V 166 rs747784796 0.2387 None gnomAD-2.1.1 8.16E-06
6842 82 D/V 166 rs747784796 0.2387 None gnomAD-4.0.0 2.0621E-06
6843 83 T/A 168 rs768574442 0.2989 None gnomAD-2.1.1 4.09E-06
6843 83 T/A 168 rs768574442 0.2989 None gnomAD-4.0.0 4.82936E-06
6843 83 T/I 168 rs1351578850 0.2989 None gnomAD-2.1.1 7.25E-06
6843 83 T/I 168 rs1351578850 0.2989 None gnomAD-3.1.2 6.57E-06
6843 83 T/I 168 rs1351578850 0.2989 None gnomAD-4.0.0 2.58736E-06
6844 84 C/W 169 None 0.0702 None gnomAD-4.0.0 1.61345E-06
6846 86 C/G 172 None 0.0867 None gnomAD-4.0.0 1.61786E-06
6846 86 C/S 172 None 0.0867 None gnomAD-4.0.0 2.0691E-06
6846 86 C/Y 172 rs947572697 0.0867 None gnomAD-3.1.2 6.57E-06
6846 86 C/Y 172 rs947572697 0.0867 None gnomAD-4.0.0 1.87261E-06
6847 87 T/S 173 rs1162932422 0.2004 None gnomAD-2.1.1 3.19E-05
6847 87 T/S 173 rs1162932422 0.2004 None gnomAD-3.1.2 6.57E-06
6847 87 T/S 173 rs1162932422 0.2004 None gnomAD-4.0.0 2.60029E-06
6848 88 V/I 174 rs1413547257 0.1122 None gnomAD-4.0.0 1.39113E-06
6850 90 L/F 177 None 0.4355 None gnomAD-4.0.0 1.66516E-06