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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
32708 1 E/K 1 rs1428233034 0.8507 None gnomAD-2.1.1 1.61E-05
32708 1 E/K 1 rs1428233034 0.8507 None gnomAD-3.1.2 6.57E-06
32708 1 E/K 1 rs1428233034 0.8507 None gnomAD-4.0.0 4.33876E-06
32709 2 R/G 2 rs1372889503 0.3287 None gnomAD-2.1.1 4.03E-06
32710 3 Y/H 3 None 0.1400 None gnomAD-4.0.0 1.20032E-06
32712 5 E/D 9 rs1169770151 0.8911 None gnomAD-2.1.1 4.02E-06
32712 5 E/D 9 rs1169770151 0.8911 None gnomAD-4.0.0 5.47444E-06
32712 5 E/Q 9 None 0.8911 None gnomAD-4.0.0 1.59164E-06
32713 6 G/D 11 rs1374598528 0.2094 None gnomAD-3.1.2 6.58E-06
32713 6 G/D 11 rs1374598528 0.2094 None gnomAD-4.0.0 1.23953E-06
32713 6 G/S 11 None 0.2094 None gnomAD-4.0.0 1.36853E-06
32713 6 G/V 11 None 0.2094 None gnomAD-4.0.0 6.84246E-07
32715 8 F/L 14 rs1693570743 0.5813 None gnomAD-3.1.2 6.57E-06
32715 8 F/L 14 rs1693570743 0.5813 None gnomAD-4.0.0 6.5703E-06
32715 8 F/S 14 None 0.5813 None gnomAD-4.0.0 1.59133E-06
32715 8 F/V 14 None 0.5813 None gnomAD-4.0.0 9.57915E-06
32716 9 V/A 16 None 0.1539 None gnomAD-4.0.0 1.59128E-06
32716 9 V/I 16 None 0.1539 None gnomAD-4.0.0 1.59133E-06
32720 13 G/D 25 None 0.2204 None gnomAD-4.0.0 1.20032E-06
32721 14 V/I 26 rs533651182 0.4129 None gnomAD-2.1.1 3.62E-05
32721 14 V/I 26 rs533651182 0.4129 None gnomAD-3.1.2 6.58E-06
32721 14 V/I 26 rs533651182 0.4129 None 1000 genomes 1.99681E-04
32721 14 V/I 26 rs533651182 0.4129 None gnomAD-4.0.0 1.98298E-05
32722 15 I/F 28 rs72648270 0.1086 None gnomAD-2.1.1 2.57618E-02
32722 15 I/F 28 rs72648270 0.1086 None gnomAD-3.1.2 1.84986E-02
32722 15 I/F 28 rs72648270 0.1086 None 1000 genomes 4.25319E-02
32722 15 I/F 28 rs72648270 0.1086 None gnomAD-4.0.0 2.16917E-02
32722 15 I/L 28 None 0.1086 None gnomAD-4.0.0 1.3684E-06
32723 16 R/S 29 rs753058072 0.5636 None gnomAD-2.1.1 8.04E-06
32723 16 R/S 29 rs753058072 0.5636 None gnomAD-3.1.2 6.57E-06
32723 16 R/S 29 rs753058072 0.5636 None gnomAD-4.0.0 9.29525E-06
32724 17 L/P 30 None 0.1051 None gnomAD-4.0.0 1.20032E-06
32725 18 T/N 31 None 0.3014 None gnomAD-4.0.0 1.20033E-06
32726 19 I/M 33 rs750062113 0.0962 None gnomAD-2.1.1 4.02E-06
32726 19 I/M 33 rs750062113 0.0962 None gnomAD-4.0.0 1.59121E-06
32726 19 I/T 33 rs758088774 0.0962 None gnomAD-2.1.1 4.02E-06
32726 19 I/T 33 rs758088774 0.0962 None gnomAD-4.0.0 6.15785E-06
32726 19 I/V 33 None 0.0962 None gnomAD-4.0.0 1.59122E-06
32727 20 P/S 34 None 0.3308 None gnomAD-4.0.0 6.84203E-07
32727 20 P/T 34 rs1276534291 0.3308 None gnomAD-2.1.1 4.02E-06
32727 20 P/T 34 rs1276534291 0.3308 None gnomAD-4.0.0 6.84203E-07
32728 21 I/N 35 rs764737796 0.1220 None gnomAD-2.1.1 1.07E-05
32728 21 I/N 35 rs764737796 0.1220 None gnomAD-3.1.2 6.58E-06
32728 21 I/N 35 rs764737796 0.1220 None gnomAD-4.0.0 3.84425E-06
32728 21 I/V 35 None 0.1220 None gnomAD-4.0.0 1.20032E-06
32729 22 K/R 38 rs1368497531 0.4994 None gnomAD-2.1.1 4.02E-06
32729 22 K/R 38 rs1368497531 0.4994 None gnomAD-4.0.0 1.3684E-06
32729 22 K/T 38 rs1368497531 0.4994 None gnomAD-4.0.0 1.3684E-06
32733 26 F/S 43 None 0.3922 None gnomAD-4.0.0 2.40065E-06
32734 27 P/Q 44 rs1559091870 0.1649 None gnomAD-4.0.0 2.40067E-06
32735 28 I/V 45 rs761246331 0.6903 None gnomAD-2.1.1 3.92E-05
32735 28 I/V 45 rs761246331 0.6903 None gnomAD-3.1.2 8.54E-05
32735 28 I/V 45 rs761246331 0.6903 None gnomAD-4.0.0 1.92108E-05
32736 29 C/Y 46 rs1693533292 0.2301 None gnomAD-4.0.0 3.18246E-06
32738 31 W/C 48 rs764039252 0.1795 None gnomAD-2.1.1 4.02E-06
32738 31 W/R 48 None 0.1795 None gnomAD-4.0.0 1.20032E-06
32739 32 T/I 49 rs886042542 0.1893 None gnomAD-3.1.2 6.58E-06
32739 32 T/I 49 rs886042542 0.1893 None gnomAD-4.0.0 2.56235E-06
32740 33 K/R 50 rs376999335 0.1320 None gnomAD-2.1.1 1.07E-05
32740 33 K/R 50 rs376999335 0.1320 None gnomAD-3.1.2 6.57E-06
32740 33 K/R 50 rs376999335 0.1320 None gnomAD-4.0.0 3.71805E-06
32740 33 K/T 50 rs376999335 0.1320 None gnomAD-3.1.2 6.57E-06
32740 33 K/T 50 rs376999335 0.1320 None gnomAD-4.0.0 6.57065E-06
32741 34 E/K 51 rs1693522689 0.4350 None gnomAD-3.1.2 6.57E-06
32741 34 E/K 51 rs1693522689 0.4350 None gnomAD-4.0.0 2.56216E-06
32742 35 G/D 52 rs201850303 0.4224 None gnomAD-2.1.1 4.28E-05
32742 35 G/D 52 rs201850303 0.4224 None gnomAD-3.1.2 7.23E-05
32742 35 G/D 52 rs201850303 0.4224 None 1000 genomes 1.99681E-04
32742 35 G/D 52 rs201850303 0.4224 None gnomAD-4.0.0 1.85893E-05
32742 35 G/V 52 None 0.4224 None gnomAD-4.0.0 6.84201E-07
32743 36 Q/R 55 rs931997387 0.7732 None gnomAD-3.1.2 1.31E-05
32743 36 Q/R 55 rs931997387 0.7732 None gnomAD-4.0.0 1.31409E-05
32744 37 D/G 56 rs1177553110 0.6012 None gnomAD-2.1.1 3.18E-05
32744 37 D/G 56 rs1177553110 0.6012 None gnomAD-3.1.2 6.57E-06
32744 37 D/G 56 rs1177553110 0.6012 None gnomAD-4.0.0 4.33773E-06
32744 37 D/N 56 None 0.6012 None gnomAD-4.0.0 1.59121E-06
32744 37 D/V 56 rs1177553110 0.6012 None gnomAD-2.1.1 4.02E-06
32744 37 D/V 56 rs1177553110 0.6012 None gnomAD-4.0.0 6.84201E-07
32746 39 S/G 59 rs1414547750 0.4198 None gnomAD-2.1.1 4.02E-06
32746 39 S/N 59 rs1410694267 0.4198 None gnomAD-2.1.1 8.04E-06
32746 39 S/N 59 rs1410694267 0.4198 None gnomAD-3.1.2 1.31E-05
32746 39 S/N 59 rs1410694267 0.4198 None gnomAD-4.0.0 1.30131E-05
32748 41 R/C 115 rs72648272 0.3102 None gnomAD-2.1.1 3.97485E-03
32748 41 R/C 115 rs72648272 0.3102 None gnomAD-3.1.2 3.6019E-03
32748 41 R/C 115 rs72648272 0.3102 None 1000 genomes 1.39776E-03
32748 41 R/C 115 rs72648272 0.3102 None gnomAD-4.0.0 3.45949E-03
32748 41 R/H 115 rs397517775 0.3102 None gnomAD-2.1.1 6.42E-05
32748 41 R/H 115 rs397517775 0.3102 None gnomAD-3.1.2 7.23E-05
32748 41 R/H 115 rs397517775 0.3102 None gnomAD-4.0.0 6.19649E-05
32749 42 A/T 121 rs1693506739 0.1145 None gnomAD-4.0.0 1.20032E-06
32750 43 M/I 122 None 0.6341 None gnomAD-4.0.0 2.40064E-06
32750 43 M/V 122 rs771143872 0.6341 None gnomAD-2.1.1 4.02E-06
32750 43 M/V 122 rs771143872 0.6341 None gnomAD-4.0.0 5.47356E-06
32751 44 I/T 123 rs746586029 0.3428 None gnomAD-2.1.1 1.78E-05
32751 44 I/T 123 rs746586029 0.3428 None gnomAD-3.1.2 3.29E-05
32751 44 I/T 123 rs746586029 0.3428 None gnomAD-4.0.0 3.71817E-05
32752 45 A/T 125 rs1239140833 0.4146 None gnomAD-2.1.1 4.02E-06
32752 45 A/T 125 rs1239140833 0.4146 None gnomAD-4.0.0 3.18241E-06
32752 45 A/V 125 rs778166587 0.4146 None gnomAD-2.1.1 8.04E-06
32752 45 A/V 125 rs778166587 0.4146 None gnomAD-4.0.0 2.05259E-06
32754 47 S/C 130 rs192952263 0.2504 None gnomAD-3.1.2 6.57E-06
32754 47 S/C 130 rs192952263 0.2504 None 1000 genomes 1.99681E-04
32754 47 S/C 130 rs192952263 0.2504 None gnomAD-4.0.0 2.02969E-06
32756 49 T/I 134 rs199805060 0.5118 None gnomAD-2.1.1 4.53225E-04
32756 49 T/I 134 rs199805060 0.5118 None gnomAD-3.1.2 1.34741E-03
32756 49 T/I 134 rs199805060 0.5118 None 1000 genomes 9.98403E-04
32756 49 T/I 134 rs199805060 0.5118 None gnomAD-4.0.0 2.44759E-04
32756 49 T/P 134 None 0.5118 None gnomAD-4.0.0 4.80129E-06
32757 50 H/N 135 rs1438849988 0.3967 None gnomAD-2.1.1 3.19E-05
32757 50 H/N 135 rs1438849988 0.3967 None gnomAD-3.1.2 6.57E-06
32757 50 H/N 135 rs1438849988 0.3967 None gnomAD-4.0.0 3.0449E-06
32759 52 E/K 137 rs748573833 0.3314 None gnomAD-2.1.1 8.04E-06
32759 52 E/K 137 rs748573833 0.3314 None gnomAD-4.0.0 3.18233E-06
32760 53 L/F 138 rs1060500523 0.0804 None gnomAD-2.1.1 3.19E-05
32760 53 L/F 138 rs1060500523 0.0804 None gnomAD-3.1.2 1.31E-05
32760 53 L/F 138 rs1060500523 0.0804 None gnomAD-4.0.0 3.84332E-06
32762 55 I/M 140 rs794729550 0.0876 None gnomAD-4.0.0 5.47355E-06
32762 55 I/N 140 None 0.0876 None gnomAD-4.0.0 1.59118E-06
32763 56 K/R 141 rs879242471 0.7143 None gnomAD-2.1.1 8.04E-06
32763 56 K/R 141 rs879242471 0.7143 None gnomAD-3.1.2 1.97E-05
32763 56 K/R 141 rs879242471 0.7143 None gnomAD-4.0.0 4.33772E-06
32764 57 E/A 143 None 0.7922 None gnomAD-2.1.1 4.02E-06
32764 57 E/A 143 None 0.7922 None gnomAD-3.1.2 6.57E-06
32764 57 E/A 143 None 0.7922 None gnomAD-4.0.0 5.12407E-06
32764 57 E/G 143 rs755276825 0.7922 None gnomAD-2.1.1 8.04E-06
32764 57 E/G 143 rs755276825 0.7922 None gnomAD-3.1.2 6.57E-06
32764 57 E/G 143 rs755276825 0.7922 None gnomAD-4.0.0 3.84305E-06
32764 57 E/K 143 rs781604869 0.7922 None gnomAD-2.1.1 8.04E-06
32764 57 E/K 143 rs781604869 0.7922 None gnomAD-3.1.2 6.57E-06
32764 57 E/K 143 rs781604869 0.7922 None gnomAD-4.0.0 7.6862E-06
32765 58 A/G 144 rs72648273 0.0935 None gnomAD-2.1.1 2.97035E-03
32765 58 A/G 144 rs72648273 0.0935 None gnomAD-3.1.2 2.47186E-03
32765 58 A/G 144 rs72648273 0.0935 None 1000 genomes 9.98403E-04
32765 58 A/G 144 rs72648273 0.0935 None gnomAD-4.0.0 2.89938E-03
32765 58 A/T 144 rs971287235 0.0935 None gnomAD-3.1.2 6.57E-06
32765 58 A/T 144 rs971287235 0.0935 None gnomAD-4.0.0 6.57272E-06
32766 59 D/Y 145 rs727504449 0.2908 None gnomAD-2.1.1 4.02E-06
32767 60 R/S 146 rs995110630 0.5130 None gnomAD-2.1.1 8.04E-06
32767 60 R/S 146 rs995110630 0.5130 None gnomAD-4.0.0 1.3684E-06
32768 61 G/V 148 None 0.3478 None gnomAD-4.0.0 1.20032E-06
32769 62 D/Y 149 rs564151542 0.1333 None gnomAD-2.1.1 4.02E-06
32769 62 D/Y 149 rs564151542 0.1333 None gnomAD-3.1.2 6.57E-06
32769 62 D/Y 149 rs564151542 0.1333 None 1000 genomes 1.99681E-04
32769 62 D/Y 149 rs564151542 0.1333 None gnomAD-4.0.0 6.56711E-06
32770 63 S/C 151 rs760728887 0.2084 None gnomAD-2.1.1 4.02E-06
32770 63 S/C 151 rs760728887 0.2084 None gnomAD-4.0.0 1.59118E-06
32771 64 G/D 152 None 0.1891 None gnomAD-4.0.0 2.40065E-06
32772 65 T/I 153 rs1163729764 0.3030 None gnomAD-2.1.1 1.21E-05
32772 65 T/I 153 rs1163729764 0.3030 None gnomAD-4.0.0 4.77359E-06
32773 66 Y/C 154 rs1693456839 0.1171 None gnomAD-3.1.2 6.57E-06
32773 66 Y/C 154 rs1693456839 0.1171 None gnomAD-4.0.0 6.57341E-06
32774 67 D/E 155 rs767435784 0.1580 None gnomAD-2.1.1 4.02E-06
32774 67 D/E 155 rs767435784 0.1580 None gnomAD-4.0.0 1.5912E-06
32774 67 D/V 155 None 0.1580 None gnomAD-4.0.0 1.59119E-06
32775 68 L/M 156 None 0.0901 None gnomAD-4.0.0 6.84202E-07
32776 69 V/L 157 None 0.3354 None gnomAD-4.0.0 1.08029E-05
32777 70 L/R 158 rs1553510213 0.1093 None gnomAD-4.0.0 2.40064E-06
32778 71 E/K 159 rs771233778 0.3420 None gnomAD-2.1.1 8.05E-06
32778 71 E/K 159 rs771233778 0.3420 None gnomAD-4.0.0 4.77374E-06
32780 73 K/E 162 rs755409666 0.4822 None gnomAD-4.0.0 3.42099E-06
32781 74 C/R 163 rs562178341 0.1979 None gnomAD-2.1.1 2.49539E-04
32781 74 C/R 163 rs562178341 0.1979 None gnomAD-3.1.2 3.95E-05
32781 74 C/R 163 rs562178341 0.1979 None 1000 genomes 1.99681E-04
32781 74 C/R 163 rs562178341 0.1979 None gnomAD-4.0.0 1.20223E-04
32781 74 C/Y 163 rs1252559965 0.1979 None gnomAD-3.1.2 1.97E-05
32781 74 C/Y 163 rs1252559965 0.1979 None gnomAD-4.0.0 8.96764E-06
32785 78 A/G 168 None 0.2755 None gnomAD-4.0.0 1.36844E-06
32785 78 A/V 168 rs2154140130 0.2755 None gnomAD-4.0.0 2.05266E-06
32786 79 V/A 169 rs1170766154 0.1375 None gnomAD-3.1.2 6.57E-06
32786 79 V/A 169 rs1170766154 0.1375 None gnomAD-4.0.0 2.02998E-06
32786 79 V/I 169 rs1206930199 0.1375 None gnomAD-2.1.1 4.03E-06
32786 79 V/I 169 rs1206930199 0.1375 None gnomAD-4.0.0 1.59124E-06
32787 80 Y/C 171 rs1419941913 0.6942 None gnomAD-3.1.2 6.57E-06
32787 80 Y/C 171 rs1419941913 0.6942 None gnomAD-4.0.0 6.57082E-06
32787 80 Y/F 171 None 0.6942 None gnomAD-4.0.0 3.18253E-06
32789 82 K/Q 173 rs769760458 0.7875 None gnomAD-2.1.1 4.03E-06
32789 82 K/Q 173 rs769760458 0.7875 None gnomAD-4.0.0 3.18251E-06
32789 82 K/R 173 rs748701203 0.7875 None gnomAD-2.1.1 1.28736E-04
32789 82 K/R 173 rs748701203 0.7875 None gnomAD-3.1.2 9.2E-05
32789 82 K/R 173 rs748701203 0.7875 None gnomAD-4.0.0 5.14363E-05
32791 84 R/S 175 None 0.6304 None gnomAD-4.0.0 6.84227E-07
32791 84 R/T 175 None 0.6304 None gnomAD-4.0.0 1.20032E-06
32792 85 V/A 177 rs747325715 0.1028 None gnomAD-2.1.1 4.03E-06
32792 85 V/A 177 rs747325715 0.1028 None gnomAD-4.0.0 3.18285E-06
32792 85 V/L 177 None 0.1028 None gnomAD-4.0.0 6.84236E-07
32792 85 V/M 177 None 0.1028 None gnomAD-4.0.0 6.84236E-07