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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
28755 1 D/A 1 rs1702996133 0.8912 None gnomAD-4.0.0 1.36965E-06
28755 1 D/V 1 None 0.8912 None gnomAD-4.0.0 4.10895E-06
28757 3 D/A 3 rs778722165 0.4758 None gnomAD-2.1.1 2.83E-05
28757 3 D/A 3 rs778722165 0.4758 None gnomAD-4.0.0 1.43843E-05
28757 3 D/G 3 rs778722165 0.4758 None gnomAD-2.1.1 3.18E-05
28757 3 D/N 3 rs946879778 0.4758 None gnomAD-2.1.1 8.08E-06
28757 3 D/N 3 rs946879778 0.4758 None gnomAD-4.0.0 4.10978E-06
28758 4 S/G 4 None 0.6515 None gnomAD-4.0.0 1.20032E-06
28759 5 E/K 5 rs1180434242 0.6002 None gnomAD-2.1.1 3.19E-05
28759 5 E/K 5 rs1180434242 0.6002 None gnomAD-3.1.2 6.57E-06
28759 5 E/K 5 rs1180434242 0.6002 None gnomAD-4.0.0 2.56881E-06
28760 6 M/I 7 rs756980643 0.4388 None gnomAD-2.1.1 1.21E-05
28760 6 M/I 7 rs756980643 0.4388 None gnomAD-3.1.2 6.57E-06
28760 6 M/I 7 rs756980643 0.4388 None gnomAD-4.0.0 3.72323E-06
28764 10 L/V 13 None 0.3744 None gnomAD-4.0.0 1.20034E-06
28765 11 I/F 14 rs1216320411 0.5670 None gnomAD-2.1.1 4.05E-06
28765 11 I/F 14 rs1216320411 0.5670 None gnomAD-4.0.0 1.59823E-06
28765 11 I/T 14 rs1553561335 0.5670 None gnomAD-4.0.0 6.16952E-06
28766 12 V/A 16 rs754113086 0.1502 None gnomAD-2.1.1 4.05E-06
28766 12 V/A 16 rs754113086 0.1502 None gnomAD-4.0.0 6.85577E-07
28766 12 V/G 16 None 0.1502 None gnomAD-4.0.0 6.85577E-07
28767 13 K/E 18 rs1348921301 0.8108 None gnomAD-3.1.2 6.57E-06
28767 13 K/E 18 rs1348921301 0.8108 None gnomAD-4.0.0 6.57281E-06
28768 14 A/D 23 None 0.4614 None gnomAD-4.0.0 1.20034E-06
28768 14 A/P 23 None 0.4614 None gnomAD-4.0.0 6.85651E-07
28768 14 A/S 23 rs768347250 0.4614 None gnomAD-4.0.0 1.3713E-06
28768 14 A/T 23 rs768347250 0.4614 None gnomAD-4.0.0 1.3713E-06
28769 15 G/A 24 rs756222422 0.3587 None gnomAD-2.1.1 8.12E-06
28769 15 G/A 24 rs756222422 0.3587 None gnomAD-4.0.0 1.59946E-06
28769 15 G/D 24 rs756222422 0.3587 None gnomAD-2.1.1 4.06E-06
28769 15 G/D 24 rs756222422 0.3587 None gnomAD-4.0.0 1.59946E-06
28770 16 A/T 25 rs752764932 0.2841 None gnomAD-2.1.1 4.06E-06
28770 16 A/T 25 rs752764932 0.2841 None gnomAD-4.0.0 3.19942E-06
28771 17 S/L 26 rs760184584 0.5248 None gnomAD-2.1.1 8.12E-06
28771 17 S/L 26 rs760184584 0.5248 None gnomAD-4.0.0 3.19947E-06
28771 17 S/P 26 rs369269686 0.5248 None gnomAD-2.1.1 1.44E-05
28771 17 S/P 26 rs369269686 0.5248 None gnomAD-3.1.2 2.63E-05
28771 17 S/P 26 rs369269686 0.5248 None gnomAD-4.0.0 5.58885E-06
28772 18 F/L 28 rs574993385 0.1683 None gnomAD-2.1.1 4.06E-06
28772 18 F/L 28 rs574993385 0.1683 None 1000 genomes 1.99681E-04
28773 19 T/A 29 None 0.3939 None gnomAD-4.0.0 1.59991E-06
28774 20 M/I 30 None 0.1468 None gnomAD-4.0.0 1.37197E-06
28774 20 M/T 30 rs766812574 0.1468 None gnomAD-2.1.1 4.06E-06
28774 20 M/T 30 rs766812574 0.1468 None gnomAD-4.0.0 4.80091E-06
28774 20 M/V 30 None 0.1468 None gnomAD-4.0.0 1.37168E-06
28775 21 T/A 31 rs1201545659 0.3840 None gnomAD-2.1.1 3.19E-05
28775 21 T/A 31 rs1201545659 0.3840 None gnomAD-3.1.2 6.57E-06
28775 21 T/A 31 rs1201545659 0.3840 None gnomAD-4.0.0 6.57384E-06
28775 21 T/I 31 None 0.3840 None gnomAD-4.0.0 2.05789E-06
28778 24 F/V 35 None 0.1550 None gnomAD-4.0.0 1.37279E-06
28779 25 R/Q 38 rs763175453 0.9072 None gnomAD-2.1.1 3.28E-05
28779 25 R/Q 38 rs763175453 0.9072 None gnomAD-3.1.2 1.97E-05
28779 25 R/Q 38 rs763175453 0.9072 None gnomAD-4.0.0 2.98549E-05
28780 26 G/E 40 None 0.3157 None gnomAD-4.0.0 6.87028E-07
28780 26 G/R 40 None 0.3157 None gnomAD-4.0.0 2.061E-06
28782 28 P/L 42 rs561319491 0.5493 None gnomAD-2.1.1 1.65E-05
28782 28 P/L 42 rs561319491 0.5493 None gnomAD-3.1.2 3.29E-05
28782 28 P/L 42 rs561319491 0.5493 None 1000 genomes 1.99681E-04
28782 28 P/L 42 rs561319491 0.5493 None gnomAD-4.0.0 2.61359E-05
28782 28 P/Q 42 None 0.5493 None gnomAD-2.1.1 4.12E-06
28782 28 P/Q 42 None 0.5493 None gnomAD-3.1.2 6.57E-06
28782 28 P/Q 42 None 0.5493 None gnomAD-4.0.0 1.30689E-05
28782 28 P/R 42 rs561319491 0.5493 None gnomAD-2.1.1 4.12E-06
28782 28 P/R 42 rs561319491 0.5493 None gnomAD-4.0.0 6.87399E-07
28783 29 V/I 43 rs763600156 0.4155 None gnomAD-2.1.1 8.24E-06
28783 29 V/I 43 rs763600156 0.4155 None gnomAD-3.1.2 6.57E-06
28783 29 V/I 43 rs763600156 0.4155 None gnomAD-4.0.0 1.24499E-06
28784 30 P/A 44 rs748783837 0.1419 None gnomAD-2.1.1 4.13E-06
28784 30 P/A 44 rs748783837 0.1419 None gnomAD-4.0.0 1.61046E-06
28784 30 P/L 44 None 0.1419 None gnomAD-4.0.0 1.37608E-06
28784 30 P/R 44 None 0.1419 None gnomAD-4.0.0 2.75215E-06
28785 31 N/K 45 rs745857020 0.7763 None gnomAD-2.1.1 4.14E-06
28785 31 N/K 45 rs745857020 0.7763 None gnomAD-3.1.2 6.57E-06
28785 31 N/K 45 rs745857020 0.7763 None gnomAD-4.0.0 1.2461E-06
28785 31 N/S 45 rs775051962 0.7763 None gnomAD-2.1.1 4.14E-06
28785 31 N/S 45 rs775051962 0.7763 None gnomAD-3.1.2 6.58E-06
28785 31 N/S 45 rs775051962 0.7763 None gnomAD-4.0.0 1.86921E-06
28786 32 V/A 46 None 0.2662 None gnomAD-4.0.0 1.61529E-06
28786 32 V/I 46 rs1219680583 0.2662 None gnomAD-4.0.0 2.06612E-06
28787 33 L/S 47 rs1237283720 0.6978 None gnomAD-2.1.1 4.16E-06
28787 33 L/S 47 rs1237283720 0.6978 None gnomAD-4.0.0 1.61777E-06
28789 35 S/G 49 None 0.3459 None gnomAD-4.0.0 6.89843E-07
28789 35 S/N 49 rs1465190956 0.3459 None gnomAD-3.1.2 1.31E-05
28789 35 S/N 49 rs1465190956 0.3459 None gnomAD-4.0.0 5.2079E-06
28789 35 S/R 49 rs774223958 0.3459 None gnomAD-2.1.1 2.95E-05
28789 35 S/R 49 rs774223958 0.3459 None gnomAD-3.1.2 5.26E-05
28789 35 S/R 49 rs774223958 0.3459 None gnomAD-4.0.0 1.20032E-06
28791 37 P/L 51 None 0.6015 None gnomAD-4.0.0 1.626E-06
28792 38 D/Y 52 None 1.0390 None gnomAD-4.0.0 2.76378E-06
28793 39 T/A 55 rs727505234 0.3009 None gnomAD-3.1.2 6.57E-06
28793 39 T/A 55 rs727505234 0.3009 None gnomAD-4.0.0 5.62684E-06
28793 39 T/S 55 None 0.3009 None gnomAD-4.0.0 2.07271E-06
28794 40 D/E 56 None 0.3846 None gnomAD-4.0.0 1.3824E-06
28794 40 D/H 56 None 0.3846 None gnomAD-4.0.0 1.63125E-06
28794 40 D/V 56 rs544440335 0.3846 None gnomAD-2.1.1 4.23E-06
28794 40 D/V 56 rs544440335 0.3846 None gnomAD-3.1.2 6.57E-06
28794 40 D/V 56 rs544440335 0.3846 None 1000 genomes 1.99681E-04
28794 40 D/V 56 rs544440335 0.3846 None gnomAD-4.0.0 6.56978E-06
28796 42 R/C 69 rs778069260 0.6796 None gnomAD-2.1.1 2.62E-05
28796 42 R/C 69 rs778069260 0.6796 None gnomAD-3.1.2 4.6E-05
28796 42 R/C 69 rs778069260 0.6796 None gnomAD-4.0.0 2.18909E-05
28796 42 R/G 69 None 0.6796 None gnomAD-4.0.0 6.9123E-07
28796 42 R/H 69 rs181167673 0.6796 None gnomAD-2.1.1 1.27E-05
28796 42 R/H 69 rs181167673 0.6796 None gnomAD-3.1.2 6.57E-06
28796 42 R/H 69 rs181167673 0.6796 None 1000 genomes 1.99681E-04
28796 42 R/H 69 rs181167673 0.6796 None gnomAD-4.0.0 7.50582E-06
28798 44 R/G 73 rs748375797 0.2292 None gnomAD-2.1.1 3.19E-05
28798 44 R/G 73 rs748375797 0.2292 None gnomAD-3.1.2 6.57E-06
28798 44 R/G 73 rs748375797 0.2292 None gnomAD-4.0.0 6.57203E-06
28798 44 R/I 73 None 0.2292 None gnomAD-4.0.0 1.62837E-06
28798 44 R/K 73 rs781458689 0.2292 None gnomAD-2.1.1 8.45E-06
28798 44 R/K 73 rs781458689 0.2292 None gnomAD-4.0.0 7.82918E-06
28799 45 A/P 102 rs755083936 0.1769 None gnomAD-2.1.1 4.23E-06
28799 45 A/T 102 rs755083936 0.1769 None gnomAD-4.0.0 1.38211E-06
28799 45 A/V 102 None 0.1769 None gnomAD-4.0.0 2.76449E-06
28800 46 Y/S 122 None 0.6758 None gnomAD-4.0.0 1.38188E-06
28801 47 V/A 123 rs994118977 0.2806 None gnomAD-3.1.2 6.57E-06
28801 47 V/A 123 rs994118977 0.2806 None gnomAD-4.0.0 1.87456E-06
28801 47 V/F 123 None 0.2806 None gnomAD-4.0.0 1.20032E-06
28801 47 V/I 123 None 0.2806 None gnomAD-4.0.0 3.60097E-06
28803 49 T/A 127 None 0.3491 None gnomAD-4.0.0 1.6242E-06
28803 49 T/I 127 rs758807133 0.3491 None gnomAD-2.1.1 8.42E-06
28803 49 T/I 127 rs758807133 0.3491 None gnomAD-3.1.2 6.57E-06
28803 49 T/I 127 rs758807133 0.3491 None gnomAD-4.0.0 7.49518E-06
28803 49 T/N 127 rs758807133 0.3491 None gnomAD-3.1.2 6.57E-06
28803 49 T/N 127 rs758807133 0.3491 None gnomAD-4.0.0 6.57358E-06
28804 50 T/A 130 rs879038909 0.2954 None gnomAD-4.0.0 2.02969E-06
28804 50 T/P 130 rs879038909 0.2954 None gnomAD-3.1.2 6.57E-06
28804 50 T/P 130 rs879038909 0.2954 None gnomAD-4.0.0 6.57263E-06
28804 50 T/R 130 rs750815763 0.2954 None gnomAD-2.1.1 4.2E-06
28804 50 T/R 130 rs750815763 0.2954 None gnomAD-4.0.0 1.62247E-06
28805 51 D/A 131 rs1028838136 0.6353 None gnomAD-2.1.1 4.2E-06
28805 51 D/A 131 rs1028838136 0.6353 None gnomAD-3.1.2 1.32E-05
28805 51 D/A 131 rs1028838136 0.6353 None gnomAD-4.0.0 5.20649E-06
28805 51 D/G 131 rs1028838136 0.6353 None gnomAD-2.1.1 6.38E-05
28805 51 D/G 131 rs1028838136 0.6353 None gnomAD-3.1.2 1.97E-05
28805 51 D/G 131 rs1028838136 0.6353 None gnomAD-4.0.0 1.97342E-05
28806 52 S/C 134 rs1060500445 0.2998 None gnomAD-3.1.2 6.57E-06
28806 52 S/C 134 rs1060500445 0.2998 None gnomAD-4.0.0 6.57272E-06
28806 52 S/F 134 rs1060500445 0.2998 None gnomAD-4.0.0 1.20032E-06
28807 53 R/C 135 rs765632053 0.4885 None gnomAD-3.1.2 6.57E-06
28807 53 R/H 135 rs375800916 0.4885 None gnomAD-2.1.1 5.18E-05
28807 53 R/H 135 rs375800916 0.4885 None gnomAD-3.1.2 4.6E-05
28807 53 R/H 135 rs375800916 0.4885 None gnomAD-4.0.0 2.12098E-04
28807 53 R/L 135 None 0.4885 None gnomAD-4.0.0 6.89223E-07
28808 54 T/A 136 rs1357418586 0.0905 None gnomAD-2.1.1 7.38E-06
28808 54 T/A 136 rs1357418586 0.0905 None gnomAD-3.1.2 6.57E-06
28808 54 T/A 136 rs1357418586 0.0905 None gnomAD-4.0.0 2.59521E-06
28808 54 T/I 136 None 0.0905 None gnomAD-4.0.0 6.88641E-07
28809 55 S/T 137 rs1702904098 0.1863 None gnomAD-4.0.0 1.20032E-06
28810 56 L/V 138 None 0.0983 None gnomAD-4.0.0 2.06226E-06
28811 57 T/S 139 rs775103234 0.2468 None gnomAD-2.1.1 8.24E-06
28811 57 T/S 139 rs775103234 0.2468 None gnomAD-3.1.2 6.57E-06
28811 57 T/S 139 rs775103234 0.2468 None gnomAD-4.0.0 1.60637E-06
28812 58 I/T 140 rs727504959 0.0765 None gnomAD-2.1.1 1.65E-05
28812 58 I/T 140 rs727504959 0.0765 None gnomAD-3.1.2 1.97E-05
28812 58 I/T 140 rs727504959 0.0765 None gnomAD-4.0.0 1.80386E-05
28812 58 I/V 140 rs201918596 0.0765 None gnomAD-2.1.1 2.37328E-04
28812 58 I/V 140 rs201918596 0.0765 None gnomAD-3.1.2 6.899E-04
28812 58 I/V 140 rs201918596 0.0765 None 1000 genomes 9.98403E-04
28812 58 I/V 140 rs201918596 0.0765 None gnomAD-4.0.0 1.27505E-04
28816 62 N/K 145 rs774349799 0.3026 None gnomAD-2.1.1 4.08E-06
28816 62 N/K 145 rs774349799 0.3026 None gnomAD-3.1.2 3.29E-05
28816 62 N/K 145 rs774349799 0.3026 None gnomAD-4.0.0 3.72583E-06
28817 63 R/K 146 rs770715791 0.7347 None gnomAD-2.1.1 8.16E-06
28817 63 R/K 146 rs770715791 0.7347 None gnomAD-4.0.0 4.79886E-06
28818 64 N/H 148 rs1481995355 0.6436 None gnomAD-2.1.1 4.07E-06
28818 64 N/H 148 rs1481995355 0.6436 None gnomAD-4.0.0 1.59839E-06
28818 64 N/S 148 rs749233410 0.6436 None gnomAD-2.1.1 4.07E-06
28818 64 N/S 148 rs749233410 0.6436 None gnomAD-4.0.0 1.59809E-06
28819 65 D/Y 149 None 0.1274 None gnomAD-4.0.0 3.19552E-06
28820 66 S/C 151 rs1212262872 0.2263 None gnomAD-2.1.1 4.06E-06
28820 66 S/C 151 rs1212262872 0.2263 None gnomAD-4.0.0 1.59634E-06
28823 69 Y/N 154 rs1702876346 0.1314 None gnomAD-3.1.2 6.57E-06
28823 69 Y/N 154 rs1702876346 0.1314 None gnomAD-4.0.0 3.7205E-06
28824 70 T/I 155 rs200709344 0.2936 None gnomAD-2.1.1 1.03915E-04
28824 70 T/I 155 rs200709344 0.2936 None gnomAD-3.1.2 9.86E-05
28824 70 T/I 155 rs200709344 0.2936 None gnomAD-4.0.0 1.24603E-04
28824 70 T/S 155 None 0.2936 None gnomAD-4.0.0 1.59337E-06
28825 71 L/F 156 None 0.1004 None gnomAD-4.0.0 1.59261E-06
28825 71 L/I 156 rs1575605256 0.1004 None gnomAD-4.0.0 1.59269E-06
28828 74 Q/E 159 rs1312264246 0.5251 None gnomAD-2.1.1 4.03E-06
28828 74 Q/E 159 rs1312264246 0.5251 None gnomAD-4.0.0 2.73726E-06
28828 74 Q/K 159 rs1312264246 0.5251 None gnomAD-2.1.1 8.06E-06
28828 74 Q/K 159 rs1312264246 0.5251 None gnomAD-4.0.0 2.73726E-06
28828 74 Q/R 159 rs1412211195 0.5251 None gnomAD-3.1.2 6.57E-06
28828 74 Q/R 159 rs1412211195 0.5251 None gnomAD-4.0.0 2.5627E-06
28829 75 N/D 161 rs371485481 0.1934 None gnomAD-2.1.1 4.03E-06
28829 75 N/D 161 rs371485481 0.1934 None gnomAD-3.1.2 1.31E-05
28829 75 N/D 161 rs371485481 0.1934 None gnomAD-4.0.0 2.47904E-06
28829 75 N/H 161 None 0.1934 None gnomAD-4.0.0 2.05289E-06
28830 76 V/A 162 None 0.7637 None gnomAD-4.0.0 1.20032E-06
28830 76 V/I 162 None 0.7637 None gnomAD-4.0.0 1.59169E-06
28831 77 L/F 163 rs755136760 0.8862 None gnomAD-2.1.1 4.03E-06
28832 78 S/G 164 rs2154158012 0.5640 None gnomAD-3.1.2 6.57E-06
28832 78 S/G 164 rs2154158012 0.5640 None gnomAD-4.0.0 2.02957E-06
28832 78 S/N 164 rs747031060 0.5640 None gnomAD-2.1.1 8.05E-06
28832 78 S/N 164 rs747031060 0.5640 None gnomAD-4.0.0 1.59145E-06
28832 78 S/T 164 rs747031060 0.5640 None gnomAD-2.1.1 4.03E-06
28832 78 S/T 164 rs747031060 0.5640 None gnomAD-4.0.0 1.59145E-06
28833 79 A/G 165 None 0.4796 None gnomAD-4.0.0 6.84236E-07
28833 79 A/S 165 rs368023553 0.4796 None gnomAD-2.1.1 5.36E-05
28833 79 A/S 165 rs368023553 0.4796 None gnomAD-3.1.2 1.57712E-04
28833 79 A/S 165 rs368023553 0.4796 None gnomAD-4.0.0 2.60281E-05
28833 79 A/T 165 rs368023553 0.4796 None gnomAD-2.1.1 4.03E-06
28833 79 A/T 165 rs368023553 0.4796 None gnomAD-4.0.0 6.84245E-07
28833 79 A/V 165 rs374108922 0.4796 None gnomAD-2.1.1 5.36E-05
28833 79 A/V 165 rs374108922 0.4796 None gnomAD-3.1.2 1.57698E-04
28833 79 A/V 165 rs374108922 0.4796 None gnomAD-4.0.0 2.60276E-05
28834 80 A/V 166 rs750913615 0.4297 None gnomAD-2.1.1 8.05E-06
28834 80 A/V 166 rs750913615 0.4297 None gnomAD-4.0.0 2.05272E-06
28836 82 L/V 169 rs1335461948 0.2891 None gnomAD-3.1.2 6.57E-06
28836 82 L/V 169 rs1335461948 0.2891 None gnomAD-4.0.0 6.5703E-06
28837 83 T/S 171 None 0.4174 None gnomAD-3.1.2 6.57E-06
28837 83 T/S 171 None 0.4174 None gnomAD-4.0.0 6.56763E-06
28839 85 V/I 173 rs1186404293 0.3395 None gnomAD-2.1.1 4.03E-06
28839 85 V/I 173 rs1186404293 0.3395 None gnomAD-3.1.2 6.57E-06
28839 85 V/I 173 rs1186404293 0.3395 None gnomAD-4.0.0 1.85911E-06
28840 86 V/A 174 rs920125248 0.1043 None gnomAD-2.1.1 4.03E-06
28840 86 V/A 174 rs920125248 0.1043 None gnomAD-3.1.2 6.57E-06
28840 86 V/A 174 rs920125248 0.1043 None gnomAD-4.0.0 1.05347E-05
28841 87 K/N 175 rs879227926 0.6080 None gnomAD-4.0.0 1.59126E-06
28842 88 V/L 177 None 0.1553 None gnomAD-4.0.0 4.80129E-06