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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
18688 1 I/V 1 None 0.2586 None gnomAD-4.0.0 2.09355E-06
18689 2 D/N 2 rs763814390 0.6127 None gnomAD-2.1.1 1.34E-05
18689 2 D/N 2 rs763814390 0.6127 None gnomAD-4.0.0 8.31067E-06
18690 3 L/I 3 None 0.1624 None gnomAD-4.0.0 1.65436E-06
18693 6 F/L 11 rs1458763630 0.4165 None gnomAD-2.1.1 4.25E-06
18693 6 F/L 11 rs1458763630 0.4165 None gnomAD-4.0.0 1.63184E-06
18694 7 M/I 13 rs566224052 0.2224 None gnomAD-2.1.1 4.25E-06
18694 7 M/I 13 rs566224052 0.2224 None gnomAD-3.1.2 6.58E-06
18694 7 M/I 13 rs566224052 0.2224 None 1000 genomes 1.99681E-04
18694 7 M/I 13 rs566224052 0.2224 None gnomAD-4.0.0 2.61243E-06
18694 7 M/T 13 rs2052797392 0.2224 None gnomAD-3.1.2 6.58E-06
18694 7 M/T 13 rs2052797392 0.2224 None gnomAD-4.0.0 1.25081E-06
18695 8 E/K 14 rs752314096 0.4142 None gnomAD-2.1.1 1.28E-05
18695 8 E/K 14 rs752314096 0.4142 None gnomAD-3.1.2 1.97E-05
18695 8 E/K 14 rs752314096 0.4142 None gnomAD-4.0.0 1.37649E-05
18696 9 V/F 16 rs1433208414 0.1952 None gnomAD-3.1.2 6.58E-06
18696 9 V/F 16 rs1433208414 0.1952 None gnomAD-4.0.0 1.24889E-06
18696 9 V/I 16 None 0.1952 None gnomAD-4.0.0 6.89932E-07
18697 10 E/D 18 rs767433299 0.5298 None gnomAD-2.1.1 4.17E-06
18697 10 E/D 18 rs767433299 0.5298 None gnomAD-4.0.0 1.61808E-06
18698 11 E/D 23 None 0.3339 None gnomAD-4.0.0 1.37783E-06
18699 12 G/E 24 rs1060500533 0.2209 None gnomAD-3.1.2 2.63E-05
18700 13 T/N 25 None 0.3196 None gnomAD-4.0.0 6.8795E-07
18700 13 T/S 25 rs1265206285 0.3196 None gnomAD-2.1.1 4.12E-06
18700 13 T/S 25 rs1265206285 0.3196 None gnomAD-4.0.0 2.06385E-06
18701 14 N/D 26 rs1001238 0.6039 None gnomAD-2.1.1 3.54674E-01
18701 14 N/D 26 rs1001238 0.6039 None gnomAD-3.1.2 3.631E-01
18701 14 N/D 26 rs1001238 0.6039 None 1000 genomes 5.1278E-01
18701 14 N/D 26 rs1001238 0.6039 None gnomAD-4.0.0 2.78915E-01
18701 14 N/I 26 None 0.6039 None gnomAD-4.0.0 6.86502E-07
18701 14 N/S 26 rs917862808 0.6039 None gnomAD-3.1.2 6.58E-06
18701 14 N/S 26 rs917862808 0.6039 None gnomAD-4.0.0 1.24324E-06
18704 17 I/L 30 rs2052786840 0.1084 None gnomAD-3.1.2 6.58E-06
18704 17 I/L 30 rs2052786840 0.1084 None gnomAD-4.0.0 6.57644E-06
18704 17 I/T 30 rs2052786313 0.1084 None gnomAD-4.0.0 1.59836E-06
18704 17 I/V 30 None 0.1084 None gnomAD-4.0.0 3.19731E-06
18705 18 V/M 31 rs1297839947 0.4263 None gnomAD-2.1.1 4.06E-06
18705 18 V/M 31 rs1297839947 0.4263 None gnomAD-4.0.0 5.48359E-06
18707 20 K/E 34 None 0.6235 None gnomAD-4.0.0 1.59679E-06
18707 20 K/T 34 rs770068370 0.6235 None gnomAD-2.1.1 4.46E-05
18707 20 K/T 34 rs770068370 0.6235 None gnomAD-3.1.2 6.58E-06
18707 20 K/T 34 rs770068370 0.6235 None gnomAD-4.0.0 1.79864E-05
18708 21 I/T 35 None 0.1359 None gnomAD-4.0.0 1.20033E-06
18710 23 G/D 40 None 0.3183 None gnomAD-4.0.0 1.59696E-06
18710 23 G/S 40 rs1328807587 0.3183 None gnomAD-2.1.1 4.06E-06
18710 23 G/S 40 rs1328807587 0.3183 None gnomAD-4.0.0 1.37057E-06
18710 23 G/V 40 rs748172946 0.3183 None gnomAD-2.1.1 4.06E-06
18710 23 G/V 40 rs748172946 0.3183 None gnomAD-4.0.0 1.59696E-06
18711 24 V/G 41 rs769265168 0.8144 None gnomAD-2.1.1 4.05E-06
18711 24 V/G 41 rs769265168 0.8144 None gnomAD-4.0.0 3.42468E-06
18712 25 P/A 42 None 0.4503 None gnomAD-4.0.0 6.85089E-07
18712 25 P/L 42 rs780740937 0.4503 None gnomAD-2.1.1 4.05E-06
18712 25 P/L 42 rs780740937 0.4503 None gnomAD-4.0.0 1.59566E-06
18712 25 P/S 42 rs747472312 0.4503 None gnomAD-2.1.1 1.21E-05
18712 25 P/S 42 rs747472312 0.4503 None gnomAD-4.0.0 2.74036E-06
18714 27 P/L 44 rs2052778665 0.1097 None gnomAD-3.1.2 1.32E-05
18714 27 P/L 44 rs2052778665 0.1097 None gnomAD-4.0.0 3.10147E-06
18716 29 L/V 46 rs1216121898 0.2019 None gnomAD-3.1.2 6.58E-06
18716 29 L/V 46 rs1216121898 0.2019 None gnomAD-4.0.0 2.5658E-06
18717 30 T/I 47 rs794729460 0.3599 None gnomAD-2.1.1 4.04E-06
18717 30 T/I 47 rs794729460 0.3599 None gnomAD-4.0.0 2.05405E-06
18719 32 F/L 49 rs1038577765 0.2241 None gnomAD-4.0.0 2.40064E-06
18719 32 F/Y 49 rs750817310 0.2241 None gnomAD-2.1.1 4.03E-06
18719 32 F/Y 49 rs750817310 0.2241 None gnomAD-4.0.0 8.40225E-06
18720 33 K/T 50 rs1200935663 0.2105 None gnomAD-2.1.1 4.03E-06
18720 33 K/T 50 rs1200935663 0.2105 None gnomAD-4.0.0 3.18682E-06
18721 34 A/S 51 None 0.1106 None gnomAD-4.0.0 1.59343E-06
18721 34 A/V 51 rs1484664592 0.1106 None gnomAD-4.0.0 4.10764E-06
18722 35 P/L 52 rs1480758213 0.3746 None gnomAD-2.1.1 4.03E-06
18724 37 K/E 56 rs1559671221 0.9781 None gnomAD-2.1.1 4.03E-06
18724 37 K/E 56 rs1559671221 0.9781 None gnomAD-4.0.0 2.7383E-06
18724 37 K/R 56 rs201091423 0.9781 None gnomAD-2.1.1 5.37E-05
18724 37 K/R 56 rs201091423 0.9781 None gnomAD-3.1.2 5.92E-05
18724 37 K/R 56 rs201091423 0.9781 None gnomAD-4.0.0 4.21579E-05
18724 37 K/T 56 rs201091423 0.9781 None gnomAD-2.1.1 2.02E-05
18724 37 K/T 56 rs201091423 0.9781 None gnomAD-3.1.2 6.58E-06
18724 37 K/T 56 rs201091423 0.9781 None gnomAD-4.0.0 1.79804E-05
18726 39 P/A 59 rs747026598 0.3992 None gnomAD-3.1.2 1.32E-05
18726 39 P/A 59 rs747026598 0.3992 None gnomAD-4.0.0 3.04536E-06
18726 39 P/L 59 rs1181651435 0.3992 None gnomAD-3.1.2 1.32E-05
18726 39 P/L 59 rs1181651435 0.3992 None gnomAD-4.0.0 3.84754E-06
18728 41 N/D 73 None 0.6707 None gnomAD-4.0.0 4.10717E-06
18728 41 N/K 73 rs2052768843 0.6707 None gnomAD-4.0.0 6.84544E-07
18729 42 K/E 74 rs754504621 0.3495 None gnomAD-2.1.1 2.02E-05
18729 42 K/E 74 rs754504621 0.3495 None gnomAD-3.1.2 6.58E-06
18729 42 K/E 74 rs754504621 0.3495 None gnomAD-4.0.0 6.41182E-06
18731 44 P/A 104 None 0.4703 None gnomAD-4.0.0 6.84522E-07
18731 44 P/H 104 None 0.4703 None gnomAD-4.0.0 1.59293E-06
18731 44 P/S 104 rs751457168 0.4703 None gnomAD-2.1.1 8.06E-06
18731 44 P/S 104 rs751457168 0.4703 None gnomAD-4.0.0 1.16369E-05
18731 44 P/T 104 rs751457168 0.4703 None gnomAD-2.1.1 1.21E-05
18731 44 P/T 104 rs751457168 0.4703 None gnomAD-4.0.0 4.10713E-06
18732 45 V/G 105 None 0.1497 None gnomAD-4.0.0 1.20032E-06
18734 47 Y/C 107 rs1056996215 0.3929 None gnomAD-2.1.1 4.03E-06
18734 47 Y/C 107 rs1056996215 0.3929 None gnomAD-3.1.2 6.58E-06
18734 47 Y/C 107 rs1056996215 0.3929 None gnomAD-4.0.0 6.19979E-06
18734 47 Y/H 107 None 0.3929 None gnomAD-4.0.0 3.18567E-06
18735 48 D/Y 108 rs1350452892 0.4221 None gnomAD-2.1.1 7.16E-06
18735 48 D/Y 108 rs1350452892 0.4221 None gnomAD-3.1.2 1.32E-05
18735 48 D/Y 108 rs1350452892 0.4221 None gnomAD-4.0.0 3.84724E-06
18736 49 T/A 109 rs1033815030 0.9792 None gnomAD-4.0.0 1.59284E-06
18736 49 T/N 109 rs1455791430 0.9792 None gnomAD-4.0.0 1.09521E-05
18736 49 T/P 109 None 0.9792 None gnomAD-4.0.0 1.59284E-06
18737 50 H/Y 115 None 0.2165 None gnomAD-4.0.0 1.59293E-06
18738 51 V/G 121 rs777956655 0.1707 None gnomAD-2.1.1 8.06E-06
18738 51 V/G 121 rs777956655 0.1707 None gnomAD-3.1.2 1.32E-05
18738 51 V/G 121 rs777956655 0.1707 None gnomAD-4.0.0 8.97572E-06
18739 52 N/K 122 rs773116579 0.6093 None gnomAD-2.1.1 4.03E-06
18739 52 N/S 122 None 0.6093 None gnomAD-4.0.0 1.59285E-06
18740 53 K/N 123 None 0.2716 None gnomAD-4.0.0 1.59287E-06
18742 55 V/A 127 None 0.3699 None gnomAD-4.0.0 1.20032E-06
18742 55 V/M 127 None 0.3699 None gnomAD-4.0.0 1.36901E-06
18743 56 V/A 130 rs1458979908 0.5450 None gnomAD-2.1.1 3.19E-05
18743 56 V/A 130 rs1458979908 0.5450 None gnomAD-3.1.2 6.58E-06
18743 56 V/A 130 rs1458979908 0.5450 None gnomAD-4.0.0 6.5754E-06
18743 56 V/I 130 rs1412927935 0.5450 None gnomAD-2.1.1 1.21E-05
18743 56 V/I 130 rs1412927935 0.5450 None gnomAD-4.0.0 4.77864E-06
18744 57 D/A 131 None 0.8310 None gnomAD-4.0.0 2.40064E-06
18745 58 D/N 134 rs1376102250 0.5295 None gnomAD-3.1.2 1.32E-05
18745 58 D/N 134 rs1376102250 0.5295 None gnomAD-4.0.0 1.31563E-05
18746 59 T/A 135 None 0.2542 None gnomAD-4.0.0 3.18579E-06
18746 59 T/I 135 rs762145585 0.2542 None gnomAD-2.1.1 8.06E-06
18746 59 T/I 135 rs762145585 0.2542 None gnomAD-4.0.0 1.59294E-06
18746 59 T/P 135 None 0.2542 None gnomAD-4.0.0 1.59289E-06
18747 60 C/G 136 None 0.1067 None gnomAD-4.0.0 1.59293E-06
18747 60 C/Y 136 rs2052747446 0.1067 None gnomAD-4.0.0 1.77983E-05
18748 61 T/I 137 rs1411214740 0.1714 None gnomAD-3.1.2 6.58E-06
18748 61 T/I 137 rs1411214740 0.1714 None gnomAD-4.0.0 4.34004E-06
18748 61 T/S 137 rs1411214740 0.1714 None gnomAD-2.1.1 4.03E-06
18748 61 T/S 137 rs1411214740 0.1714 None gnomAD-4.0.0 6.8452E-07
18749 62 L/S 138 rs2052744702 0.0848 None gnomAD-4.0.0 1.20032E-06
18751 64 I/F 140 None 0.1017 None gnomAD-4.0.0 2.05369E-06
18752 65 P/L 141 rs200132226 0.3354 None gnomAD-2.1.1 1.57529E-04
18752 65 P/L 141 rs200132226 0.3354 None gnomAD-3.1.2 1.38192E-04
18752 65 P/L 141 rs200132226 0.3354 None gnomAD-4.0.0 1.99676E-04
18752 65 P/Q 141 rs200132226 0.3354 None gnomAD-2.1.1 4.03E-06
18752 65 P/Q 141 rs200132226 0.3354 None gnomAD-4.0.0 2.05387E-06
18753 66 Q/E 143 None 0.4807 None gnomAD-4.0.0 1.59342E-06
18753 66 Q/R 143 None 0.4807 None gnomAD-4.0.0 1.59343E-06
18755 68 R/C 145 rs143659933 0.4012 None gnomAD-2.1.1 4.3E-05
18755 68 R/C 145 rs143659933 0.4012 None gnomAD-3.1.2 3.95E-05
18755 68 R/C 145 rs143659933 0.4012 None gnomAD-4.0.0 1.79829E-05
18755 68 R/H 145 rs772767570 0.4012 None gnomAD-2.1.1 1.62E-05
18755 68 R/H 145 rs772767570 0.4012 None gnomAD-3.1.2 6.58E-06
18755 68 R/H 145 rs772767570 0.4012 None gnomAD-4.0.0 6.82281E-06
18755 68 R/L 145 rs772767570 0.4012 None gnomAD-4.0.0 6.84819E-07
18755 68 R/S 145 rs143659933 0.4012 None gnomAD-2.1.1 4.04E-06
18755 68 R/S 145 rs143659933 0.4012 None gnomAD-3.1.2 6.58E-06
18755 68 R/S 145 rs143659933 0.4012 None gnomAD-4.0.0 6.5741E-06
18756 69 R/G 146 None 0.1837 None gnomAD-4.0.0 1.59387E-06
18756 69 R/K 146 rs1440402638 0.1837 None gnomAD-2.1.1 4.04E-06
18756 69 R/K 146 rs1440402638 0.1837 None gnomAD-4.0.0 3.18827E-06
18756 69 R/T 146 None 0.1837 None gnomAD-4.0.0 3.18827E-06
18757 70 S/T 148 rs1280256540 0.5232 None gnomAD-2.1.1 4.04E-06
18757 70 S/T 148 rs1280256540 0.5232 None gnomAD-4.0.0 1.59461E-06
18758 71 D/G 149 None 0.1623 None gnomAD-4.0.0 1.20032E-06
18758 71 D/N 149 rs748163322 0.1623 None gnomAD-4.0.0 1.20032E-06
18759 72 T/P 151 None 0.2477 None gnomAD-4.0.0 1.5952E-06
18760 73 G/R 152 None 0.1153 None gnomAD-4.0.0 1.59638E-06
18761 74 L/V 153 None 0.1635 None gnomAD-4.0.0 1.20032E-06
18762 75 Y/C 154 rs2052736042 0.1336 None gnomAD-3.1.2 6.58E-06
18762 75 Y/C 154 rs2052736042 0.1336 None gnomAD-4.0.0 2.48257E-06
18762 75 Y/H 154 None 0.1336 None gnomAD-4.0.0 1.20032E-06
18762 75 Y/N 154 None 0.1336 None gnomAD-4.0.0 1.20032E-06
18763 76 T/I 155 rs746218913 0.1321 None gnomAD-2.1.1 3.19E-05
18763 76 T/I 155 rs746218913 0.1321 None gnomAD-3.1.2 1.32E-05
18763 76 T/I 155 rs746218913 0.1321 None gnomAD-4.0.0 1.18051E-05
18763 76 T/N 155 rs746218913 0.1321 None gnomAD-2.1.1 4.07E-06
18763 76 T/N 155 rs746218913 0.1321 None gnomAD-4.0.0 2.05834E-06
18764 77 I/N 156 None 0.0719 None gnomAD-4.0.0 2.40064E-06
18764 77 I/V 156 None 0.0719 None gnomAD-4.0.0 1.60411E-06
18766 79 A/P 158 rs727505268 0.1103 None gnomAD-2.1.1 5.32E-05
18766 79 A/P 158 rs727505268 0.1103 None gnomAD-4.0.0 3.09292E-05
18767 80 V/I 159 rs1275550493 0.3431 None gnomAD-2.1.1 3.19E-05
18767 80 V/I 159 rs1275550493 0.3431 None gnomAD-3.1.2 6.58E-06
18767 80 V/I 159 rs1275550493 0.3431 None gnomAD-4.0.0 2.03024E-06
18768 81 N/S 161 None 0.1944 None gnomAD-4.0.0 1.62068E-06
18769 82 N/D 162 None 0.6570 None gnomAD-4.0.0 1.62984E-06
18770 83 L/R 163 rs1470434078 0.8612 None gnomAD-3.1.2 6.58E-06
18770 83 L/R 163 rs1470434078 0.8612 None gnomAD-4.0.0 6.53745E-06
18771 84 G/A 164 None 0.3562 None gnomAD-4.0.0 1.63586E-06
18772 85 T/A 165 rs964263107 0.5670 None gnomAD-2.1.1 3.19E-05
18772 85 T/A 165 rs964263107 0.5670 None gnomAD-3.1.2 1.97E-05
18772 85 T/A 165 rs964263107 0.5670 None gnomAD-4.0.0 1.97254E-05
18772 85 T/I 165 rs370118111 0.5670 None gnomAD-2.1.1 8.42E-06
18772 85 T/I 165 rs370118111 0.5670 None gnomAD-3.1.2 5.92E-05
18772 85 T/I 165 rs370118111 0.5670 None gnomAD-4.0.0 1.96885E-05
18773 86 A/T 166 None 0.3645 None gnomAD-4.0.0 1.64746E-06
18775 88 K/E 169 rs1330261785 0.2979 None gnomAD-2.1.1 4.28E-06
18775 88 K/E 169 rs1330261785 0.2979 None gnomAD-4.0.0 3.30844E-06
18775 88 K/N 169 rs747785028 0.2979 None gnomAD-2.1.1 8.6E-06
18775 88 K/N 169 rs747785028 0.2979 None gnomAD-4.0.0 2.78477E-06
18776 89 E/K 171 rs987030753 0.3108 None gnomAD-4.0.0 1.65905E-06
18777 90 M/L 172 rs1369067866 0.0894 None gnomAD-2.1.1 3.19E-05
18777 90 M/L 172 rs1369067866 0.0894 None gnomAD-3.1.2 6.58E-06
18777 90 M/L 172 rs1369067866 0.0894 None gnomAD-4.0.0 6.57626E-06
18778 91 R/I 173 rs1178812946 0.3653 None gnomAD-4.0.0 1.4046E-06
18778 91 R/K 173 None 0.3653 None gnomAD-4.0.0 7.02302E-07
18781 94 V/D 177 None 0.0819 None gnomAD-4.0.0 1.72885E-06
18781 94 V/F 177 rs2052720429 0.0819 None gnomAD-3.1.2 6.58E-06
18781 94 V/F 177 rs2052720429 0.0819 None gnomAD-4.0.0 6.57626E-06