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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2707 1 V/I 1 rs376758159 0.5447 None gnomAD-2.1.1 1.79E-05
2707 1 V/I 1 rs376758159 0.5447 None gnomAD-3.1.2 1.97E-05
2707 1 V/I 1 rs376758159 0.5447 None gnomAD-4.0.0 9.00518E-06
2709 3 I/S 3 rs2091328773 0.2888 None gnomAD-3.1.2 6.57E-06
2709 3 I/S 3 rs2091328773 0.2888 None gnomAD-4.0.0 6.56978E-06
2711 5 K/E 5 None 0.4847 None gnomAD-4.0.0 2.40065E-06
2712 6 T/S 7 rs886042774 0.5966 None gnomAD-4.0.0 6.84641E-07
2715 9 N/S 11 None 0.6173 None gnomAD-4.0.0 6.84387E-07
2716 10 L/P 13 rs752870590 0.2186 None gnomAD-2.1.1 3.99E-06
2716 10 L/P 13 rs752870590 0.2186 None gnomAD-3.1.2 6.57E-06
2716 10 L/P 13 rs752870590 0.2186 None gnomAD-4.0.0 5.12554E-06
2717 11 T/A 14 rs1478991790 0.4410 None gnomAD-4.0.0 1.59148E-06
2717 11 T/K 14 rs781565875 0.4410 None gnomAD-2.1.1 3.99E-06
2718 12 V/A 16 rs2091324546 0.1460 None gnomAD-4.0.0 1.59126E-06
2719 13 T/A 18 rs2091324218 0.1736 None gnomAD-3.1.2 6.57E-06
2719 13 T/A 18 rs2091324218 0.1736 None gnomAD-4.0.0 2.56179E-06
2719 13 T/S 18 None 0.1736 None gnomAD-4.0.0 1.59114E-06
2720 14 E/G 23 rs755264814 0.2427 None gnomAD-2.1.1 3.99E-06
2720 14 E/G 23 rs755264814 0.2427 None gnomAD-4.0.0 4.78915E-06
2722 16 Q/K 25 None 0.3378 None gnomAD-4.0.0 1.20032E-06
2722 16 Q/P 25 None 0.3378 None gnomAD-4.0.0 6.84147E-07
2722 16 Q/R 25 rs752069599 0.3378 None gnomAD-2.1.1 1.2E-05
2723 17 D/E 26 None 0.3564 None gnomAD-4.0.0 1.59077E-06
2723 17 D/G 26 None 0.3564 None gnomAD-4.0.0 1.20032E-06
2723 17 D/N 26 rs766896377 0.3564 None gnomAD-2.1.1 7.97E-06
2723 17 D/N 26 rs766896377 0.3564 None gnomAD-4.0.0 2.80492E-05
2724 18 A/T 28 rs1346689247 0.1254 None gnomAD-2.1.1 3.98E-06
2724 18 A/T 28 rs1346689247 0.1254 None gnomAD-4.0.0 1.36825E-06
2725 19 V/A 29 rs146979556 0.3250 None gnomAD-2.1.1 7.97E-06
2725 19 V/A 29 rs146979556 0.3250 None gnomAD-4.0.0 1.59074E-06
2725 19 V/I 29 None 0.3250 None gnomAD-4.0.0 4.80129E-06
2726 20 F/L 30 None 0.1088 None gnomAD-4.0.0 1.20032E-06
2727 21 T/A 31 None 0.4736 None gnomAD-4.0.0 1.36817E-06
2729 23 E/D 34 None 0.1637 None gnomAD-4.0.0 1.20032E-06
2729 23 E/K 34 rs763702243 0.1637 None gnomAD-2.1.1 1.06E-05
2729 23 E/K 34 rs763702243 0.1637 None gnomAD-3.1.2 8.54E-05
2729 23 E/K 34 rs763702243 0.1637 None gnomAD-4.0.0 2.17715E-05
2730 24 L/P 35 None 0.1197 None gnomAD-4.0.0 1.20032E-06
2731 25 T/A 38 rs2091318582 0.3137 None gnomAD-4.0.0 1.59055E-06
2731 25 T/I 38 None 0.3137 None gnomAD-4.0.0 1.59057E-06
2732 26 H/Y 40 None 0.7444 None gnomAD-4.0.0 1.20032E-06
2733 27 P/S 41 rs1407570813 0.4847 None gnomAD-2.1.1 3.19E-05
2733 27 P/S 41 rs1407570813 0.4847 None gnomAD-3.1.2 6.58E-06
2733 27 P/S 41 rs1407570813 0.4847 None gnomAD-4.0.0 6.57713E-06
2734 28 N/D 42 rs775219028 0.9062 None gnomAD-2.1.1 7.96E-06
2734 28 N/D 42 rs775219028 0.9062 None gnomAD-4.0.0 1.36815E-06
2734 28 N/H 42 rs775219028 0.9062 None gnomAD-2.1.1 3.98E-06
2734 28 N/H 42 rs775219028 0.9062 None gnomAD-4.0.0 6.84075E-07
2734 28 N/K 42 None 0.9062 None gnomAD-4.0.0 1.59052E-06
2735 29 V/A 43 rs1352413380 0.2671 None gnomAD-2.1.1 3.98E-06
2735 29 V/A 43 rs1352413380 0.2671 None gnomAD-4.0.0 3.42038E-06
2737 31 G/R 45 rs2091316811 0.5058 None gnomAD-4.0.0 1.59051E-06
2737 31 G/V 45 rs1308651047 0.5058 None gnomAD-2.1.1 3.98E-06
2737 31 G/V 45 rs1308651047 0.5058 None gnomAD-4.0.0 3.181E-06
2738 32 V/I 46 rs1340253990 0.2307 None gnomAD-4.0.0 1.59052E-06
2742 36 K/Q 50 rs1357613078 0.1374 None gnomAD-2.1.1 3.98E-06
2742 36 K/Q 50 rs1357613078 0.1374 None gnomAD-4.0.0 1.59049E-06
2744 38 G/A 52 rs556908341 0.4627 None gnomAD-2.1.1 2.66747E-04
2744 38 G/A 52 rs556908341 0.4627 None gnomAD-3.1.2 7.89E-05
2744 38 G/A 52 rs556908341 0.4627 None 1000 genomes 5.99042E-04
2744 38 G/A 52 rs556908341 0.4627 None gnomAD-4.0.0 1.19569E-04
2745 39 V/D 55 rs759392982 0.6296 None gnomAD-2.1.1 3.98E-06
2745 39 V/D 55 rs759392982 0.6296 None gnomAD-4.0.0 1.59049E-06
2745 39 V/I 55 rs1415984785 0.6296 None gnomAD-2.1.1 3.98E-06
2745 39 V/I 55 rs1415984785 0.6296 None gnomAD-4.0.0 1.59049E-06
2746 40 V/L 56 rs1056269539 0.3807 None gnomAD-3.1.2 6.57E-06
2746 40 V/L 56 rs1056269539 0.3807 None gnomAD-4.0.0 6.57108E-06
2749 43 S/P 70 None 0.4255 None gnomAD-4.0.0 1.59049E-06
2750 44 N/I 73 rs1471538206 0.3853 None gnomAD-2.1.1 3.98E-06
2750 44 N/I 73 rs1471538206 0.3853 None gnomAD-4.0.0 3.42032E-06
2750 44 N/S 73 rs1471538206 0.3853 None gnomAD-2.1.1 3.98E-06
2750 44 N/S 73 rs1471538206 0.3853 None gnomAD-3.1.2 6.57E-06
2750 44 N/S 73 rs1471538206 0.3853 None gnomAD-4.0.0 5.57615E-06
2751 45 E/G 111 rs368235451 0.9425 None gnomAD-2.1.1 3.19E-05
2751 45 E/G 111 rs368235451 0.9425 None gnomAD-3.1.2 6.57E-06
2751 45 E/G 111 rs368235451 0.9425 None gnomAD-4.0.0 3.15978E-05
2752 46 K/N 115 rs1253422827 0.1624 None gnomAD-2.1.1 3.98E-06
2752 46 K/N 115 rs1253422827 0.1624 None gnomAD-4.0.0 3.18098E-06
2753 47 Y/C 121 rs2091310789 0.2032 None gnomAD-4.0.0 1.5905E-06
2754 48 A/G 122 rs770875496 0.2426 None gnomAD-2.1.1 2.79E-05
2754 48 A/G 122 rs770875496 0.2426 None gnomAD-4.0.0 7.52474E-06
2755 49 I/L 123 rs749379860 0.2811 None gnomAD-2.1.1 3.98E-06
2755 49 I/M 123 rs1235358964 0.2811 None gnomAD-2.1.1 3.98E-06
2755 49 I/M 123 rs1235358964 0.2811 None gnomAD-4.0.0 1.5905E-06
2755 49 I/N 123 rs2091308831 0.2811 None gnomAD-3.1.2 6.57E-06
2755 49 I/N 123 rs2091308831 0.2811 None gnomAD-4.0.0 3.04473E-06
2755 49 I/V 123 rs749379860 0.2811 None gnomAD-4.0.0 1.20032E-06
2757 51 V/G 127 rs1267823803 0.4068 None gnomAD-2.1.1 3.98E-06
2757 51 V/G 127 rs1267823803 0.4068 None gnomAD-4.0.0 1.59049E-06
2757 51 V/I 127 rs769822096 0.4068 None gnomAD-2.1.1 1.99E-05
2757 51 V/I 127 rs769822096 0.4068 None gnomAD-3.1.2 2.63E-05
2757 51 V/I 127 rs769822096 0.4068 None gnomAD-4.0.0 2.16853E-05
2758 52 K/R 130 rs748372588 0.9282 None gnomAD-2.1.1 7.97E-06
2758 52 K/R 130 rs748372588 0.9282 None gnomAD-3.1.2 1.31E-05
2758 52 K/R 130 rs748372588 0.9282 None gnomAD-4.0.0 6.40277E-06
2758 52 K/T 130 None 0.9282 None gnomAD-4.0.0 1.59049E-06
2759 53 G/E 131 None 0.4079 None gnomAD-4.0.0 1.59051E-06
2760 54 T/I 134 None 0.2463 None gnomAD-4.0.0 1.36814E-06
2761 55 I/V 135 None 0.4172 None gnomAD-4.0.0 4.10441E-06
2762 56 Y/C 136 rs1553995474 0.1570 None gnomAD-4.0.0 3.18101E-06
2762 56 Y/H 136 None 0.1570 None gnomAD-4.0.0 1.20032E-06
2763 57 S/F 137 rs1231235466 0.1994 None gnomAD-4.0.0 2.40065E-06
2764 58 L/V 138 rs2091305777 0.0740 None gnomAD-4.0.0 4.10441E-06
2765 59 R/K 139 None 0.3782 None gnomAD-4.0.0 1.59051E-06
2765 59 R/M 139 None 0.3782 None gnomAD-3.1.2 6.57E-06
2765 59 R/M 139 None 0.3782 None gnomAD-4.0.0 6.57073E-06
2765 59 R/T 139 None 0.3782 None gnomAD-4.0.0 1.59051E-06
2766 60 I/F 140 rs1414224093 0.0757 None gnomAD-2.1.1 3.99E-06
2766 60 I/F 140 rs1414224093 0.0757 None gnomAD-4.0.0 1.5905E-06
2766 60 I/T 140 rs755389555 0.0757 None gnomAD-2.1.1 3.99E-06
2766 60 I/T 140 rs755389555 0.0757 None gnomAD-4.0.0 1.59051E-06
2767 61 K/N 141 None 0.3086 None gnomAD-4.0.0 1.59052E-06
2767 61 K/R 141 None 0.3086 None gnomAD-4.0.0 1.59051E-06
2768 62 N/I 143 rs747393998 0.6198 None gnomAD-2.1.1 7.97E-06
2768 62 N/I 143 rs747393998 0.6198 None gnomAD-4.0.0 1.59051E-06
2769 63 C/G 144 rs1313199971 0.0879 None gnomAD-2.1.1 3.18E-05
2769 63 C/G 144 rs1313199971 0.0879 None gnomAD-3.1.2 6.57E-06
2769 63 C/G 144 rs1313199971 0.0879 None gnomAD-4.0.0 3.71733E-06
2769 63 C/R 144 None 0.0879 None gnomAD-4.0.0 6.84068E-07
2770 64 A/V 145 rs1329726455 0.2128 None gnomAD-3.1.2 6.57E-06
2770 64 A/V 145 rs1329726455 0.2128 None gnomAD-4.0.0 1.23906E-06
2771 65 I/M 146 rs576644663 0.6621 None gnomAD-2.1.1 1.06E-05
2771 65 I/M 146 rs576644663 0.6621 None gnomAD-3.1.2 6.57E-06
2771 65 I/M 146 rs576644663 0.6621 None gnomAD-4.0.0 1.85874E-06
2771 65 I/T 146 rs780465670 0.6621 None gnomAD-2.1.1 1.42E-05
2771 65 I/T 146 rs780465670 0.6621 None gnomAD-3.1.2 4.6E-05
2771 65 I/T 146 rs780465670 0.6621 None gnomAD-4.0.0 5.20422E-05
2771 65 I/V 146 rs1416391085 0.6621 None gnomAD-2.1.1 3.18E-05
2771 65 I/V 146 rs1416391085 0.6621 None gnomAD-3.1.2 6.57E-06
2771 65 I/V 146 rs1416391085 0.6621 None gnomAD-4.0.0 6.56935E-06
2772 66 V/M 148 rs143035953 0.7122 None gnomAD-2.1.1 4.25047E-04
2772 66 V/M 148 rs143035953 0.7122 None gnomAD-3.1.2 1.03833E-03
2772 66 V/M 148 rs143035953 0.7122 None 1000 genomes 9.98403E-04
2772 66 V/M 148 rs143035953 0.7122 None gnomAD-4.0.0 2.46573E-04
2773 67 D/E 149 rs1364502747 0.1565 None gnomAD-2.1.1 3.18E-05
2773 67 D/E 149 rs1364502747 0.1565 None gnomAD-3.1.2 6.57E-06
2773 67 D/E 149 rs1364502747 0.1565 None gnomAD-4.0.0 6.56953E-06
2773 67 D/G 149 None 0.1565 None gnomAD-4.0.0 1.20032E-06
2773 67 D/N 149 rs1455641988 0.1565 None gnomAD-2.1.1 1.2E-05
2773 67 D/N 149 rs1455641988 0.1565 None gnomAD-3.1.2 6.57E-06
2773 67 D/N 149 rs1455641988 0.1565 None gnomAD-4.0.0 6.40279E-06
2774 68 E/D 151 None 0.2986 None gnomAD-4.0.0 1.59052E-06
2774 68 E/K 151 None 0.2986 None gnomAD-2.1.1 3.99E-06
2774 68 E/K 151 None 0.2986 None gnomAD-3.1.2 1.31E-05
2774 68 E/K 151 None 0.2986 None gnomAD-4.0.0 1.15249E-05
2774 68 E/Q 151 rs763666119 0.2986 None gnomAD-2.1.1 3.99E-06
2774 68 E/Q 151 rs763666119 0.2986 None gnomAD-3.1.2 6.57E-06
2774 68 E/Q 151 rs763666119 0.2986 None gnomAD-4.0.0 6.57065E-06
2775 69 S/C 152 None 0.1137 None gnomAD-4.0.0 1.59053E-06
2775 69 S/F 152 rs1422746407 0.1137 None gnomAD-2.1.1 3.99E-06
2775 69 S/F 152 rs1422746407 0.1137 None gnomAD-4.0.0 1.59053E-06
2775 69 S/P 152 rs755629576 0.1137 None gnomAD-2.1.1 7.97E-06
2775 69 S/P 152 rs755629576 0.1137 None gnomAD-3.1.2 2.63E-05
2775 69 S/P 152 rs755629576 0.1137 None gnomAD-4.0.0 2.63061E-05
2776 70 V/F 153 rs752456093 0.3714 None gnomAD-2.1.1 3.99E-06
2776 70 V/F 153 rs752456093 0.3714 None gnomAD-4.0.0 1.59052E-06
2777 71 Y/C 154 None 0.1005 None gnomAD-4.0.0 1.36815E-06
2778 72 G/A 155 rs767274457 0.1495 None gnomAD-4.0.0 6.84073E-07
2778 72 G/D 155 None 0.1495 None gnomAD-2.1.1 1.59E-05
2778 72 G/D 155 None 0.1495 None gnomAD-4.0.0 6.84073E-06
2781 75 L/F 158 rs759448192 0.2190 None gnomAD-2.1.1 4.78E-05
2781 75 L/F 158 rs759448192 0.2190 None gnomAD-3.1.2 1.97E-05
2781 75 L/F 158 rs759448192 0.2190 None gnomAD-4.0.0 3.15985E-05
2782 76 G/A 159 rs2091296407 0.5033 None gnomAD-4.0.0 1.36814E-06
2782 76 G/R 159 rs774178619 0.5033 None gnomAD-2.1.1 3.99E-06
2782 76 G/R 159 rs774178619 0.5033 None gnomAD-4.0.0 1.59055E-06
2782 76 G/V 159 None 0.5033 None gnomAD-4.0.0 6.84072E-07
2783 77 R/S 161 rs374375627 1.0449 None gnomAD-2.1.1 3.99E-06
2783 77 R/S 161 rs374375627 1.0449 None gnomAD-4.0.0 1.36815E-06
2784 78 L/I 162 None 0.4009 None gnomAD-4.0.0 1.59055E-06
2784 78 L/P 162 None 0.4009 None gnomAD-4.0.0 2.73631E-06
2784 78 L/R 162 rs766041336 0.4009 None gnomAD-2.1.1 3.99E-06
2784 78 L/R 162 rs766041336 0.4009 None gnomAD-3.1.2 6.57E-06
2784 78 L/R 162 rs766041336 0.4009 None gnomAD-4.0.0 1.23904E-06
2785 79 G/R 163 None 0.4561 None gnomAD-4.0.0 1.59056E-06