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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
2621 1 A/D 1 rs753441258 1.2861 None gnomAD-2.1.1 6.37E-05
2621 1 A/D 1 rs753441258 1.2861 None gnomAD-3.1.2 6.57E-06
2621 1 A/D 1 rs753441258 1.2861 None gnomAD-4.0.0 9.91497E-06
2621 1 A/V 1 rs753441258 1.2861 None gnomAD-2.1.1 1.59E-05
2621 1 A/V 1 rs753441258 1.2861 None gnomAD-3.1.2 6.57E-06
2621 1 A/V 1 rs753441258 1.2861 None gnomAD-4.0.0 8.6756E-06
2622 2 I/V 3 rs148394362 0.7016 None gnomAD-2.1.1 1.06E-05
2622 2 I/V 3 rs148394362 0.7016 None gnomAD-3.1.2 1.97E-05
2622 2 I/V 3 rs148394362 0.7016 None 1000 genomes 1.99681E-04
2622 2 I/V 3 rs148394362 0.7016 None gnomAD-4.0.0 7.68443E-06
2624 4 K/Q 5 None 0.4814 None gnomAD-4.0.0 1.59111E-06
2624 4 K/R 5 rs1163440648 0.4814 None gnomAD-3.1.2 6.57E-06
2624 4 K/R 5 rs1163440648 0.4814 None gnomAD-4.0.0 5.07456E-06
2625 5 P/S 7 None 0.5110 None gnomAD-4.0.0 2.40064E-06
2627 7 T/A 9 rs1451021817 0.6932 None gnomAD-2.1.1 3.98E-06
2627 7 T/A 9 rs1451021817 0.6932 None gnomAD-4.0.0 1.59111E-06
2628 8 D/N 11 rs1401260023 0.4784 None gnomAD-3.1.2 6.57E-06
2628 8 D/N 11 rs1401260023 0.4784 None gnomAD-4.0.0 3.84271E-06
2629 9 Q/H 13 rs1360901635 0.2329 None gnomAD-3.1.2 1.31E-05
2629 9 Q/H 13 rs1360901635 0.2329 None gnomAD-4.0.0 1.31432E-05
2630 10 T/S 14 rs2091468969 0.4584 None gnomAD-4.0.0 1.59105E-06
2631 11 V/I 16 rs766753906 0.1722 None gnomAD-2.1.1 3.89E-05
2631 11 V/I 16 rs766753906 0.1722 None gnomAD-3.1.2 6.57E-05
2631 11 V/I 16 rs766753906 0.1722 None gnomAD-4.0.0 3.03636E-05
2632 12 A/G 18 rs1210961482 0.0976 None gnomAD-2.1.1 3.98E-06
2632 12 A/G 18 rs1210961482 0.0976 None gnomAD-4.0.0 1.59103E-06
2632 12 A/T 18 None 0.0976 None gnomAD-4.0.0 3.18202E-06
2633 13 E/A 23 None 0.3399 None gnomAD-4.0.0 1.59102E-06
2634 14 S/P 24 rs1488243679 0.3854 None gnomAD-2.1.1 3.18E-05
2634 14 S/P 24 rs1488243679 0.3854 None gnomAD-3.1.2 1.97E-05
2634 14 S/P 24 rs1488243679 0.3854 None gnomAD-4.0.0 5.12341E-06
2635 15 Q/R 25 rs773524537 0.2016 None gnomAD-4.0.0 1.59093E-06
2636 16 E/V 26 rs1207371966 0.3976 None gnomAD-2.1.1 3.98E-06
2636 16 E/V 26 rs1207371966 0.3976 None gnomAD-4.0.0 3.18187E-06
2637 17 A/V 28 None 0.1455 None gnomAD-4.0.0 6.00161E-06
2638 18 V/E 29 None 0.3262 None gnomAD-4.0.0 3.1818E-06
2638 18 V/L 29 rs878870422 0.3262 None gnomAD-4.0.0 1.59093E-06
2639 19 F/C 30 rs794729580 0.1079 None gnomAD-4.0.0 2.05242E-06
2639 19 F/S 30 None 0.1079 None gnomAD-4.0.0 6.84139E-07
2640 20 E/G 31 rs1343185312 0.2899 None gnomAD-2.1.1 3.98E-06
2640 20 E/G 31 rs1343185312 0.2899 None gnomAD-4.0.0 2.05242E-06
2641 21 C/R 33 rs762210511 0.1085 None gnomAD-2.1.1 3.98E-06
2641 21 C/R 33 rs762210511 0.1085 None gnomAD-4.0.0 1.59087E-06
2642 22 E/G 34 None 0.2988 None gnomAD-4.0.0 1.20032E-06
2642 22 E/K 34 None 0.2988 None gnomAD-4.0.0 1.59089E-06
2643 23 V/F 35 rs886042338 0.1724 None gnomAD-2.1.1 3.98E-06
2643 23 V/F 35 rs886042338 0.1724 None gnomAD-4.0.0 1.20032E-06
2645 25 N/S 40 rs572589233 0.4444 None gnomAD-2.1.1 3.98E-06
2645 25 N/S 40 rs572589233 0.4444 None gnomAD-3.1.2 1.31E-05
2645 25 N/S 40 rs572589233 0.4444 None 1000 genomes 1.99681E-04
2645 25 N/S 40 rs572589233 0.4444 None gnomAD-4.0.0 3.09785E-06
2646 26 P/L 41 rs1303067253 0.2865 None gnomAD-2.1.1 3.98E-06
2646 26 P/L 41 rs1303067253 0.2865 None gnomAD-4.0.0 1.59081E-06
2647 27 D/Y 43 rs1252111410 0.8173 None gnomAD-2.1.1 3.18E-05
2647 27 D/Y 43 rs1252111410 0.8173 None gnomAD-3.1.2 1.97E-05
2647 27 D/Y 43 rs1252111410 0.8173 None gnomAD-4.0.0 1.97176E-05
2649 29 K/E 45 rs769037510 0.9916 None gnomAD-2.1.1 3.98E-06
2649 29 K/R 45 rs745433704 0.9916 None gnomAD-2.1.1 3.98E-06
2649 29 K/R 45 rs745433704 0.9916 None gnomAD-4.0.0 4.78879E-06
2651 31 E/K 47 rs770388400 0.3832 None gnomAD-2.1.1 2.39E-05
2651 31 E/K 47 rs770388400 0.3832 None gnomAD-3.1.2 6.57E-06
2651 31 E/K 47 rs770388400 0.3832 None gnomAD-4.0.0 1.85882E-05
2652 32 W/L 48 None 0.1689 None gnomAD-4.0.0 1.59066E-06
2654 34 R/K 50 rs147207100 0.1698 None gnomAD-2.1.1 2.75942E-04
2654 34 R/K 50 rs147207100 0.1698 None gnomAD-3.1.2 8.74425E-04
2654 34 R/K 50 rs147207100 0.1698 None 1000 genomes 3.99361E-04
2654 34 R/K 50 rs147207100 0.1698 None gnomAD-4.0.0 1.88972E-04
2654 34 R/S 50 rs1422023102 0.1698 None gnomAD-4.0.0 6.84097E-07
2655 35 D/Y 51 rs1379744895 0.4614 None gnomAD-2.1.1 3.98E-06
2655 35 D/Y 51 rs1379744895 0.4614 None gnomAD-4.0.0 1.59064E-06
2657 37 K/E 55 None 0.7484 None gnomAD-4.0.0 1.20032E-06
2658 38 H/L 56 None 0.6945 None gnomAD-4.0.0 1.20032E-06
2658 38 H/Q 56 rs1158775069 0.6945 None gnomAD-4.0.0 1.59059E-06
2658 38 H/Y 56 rs1023349406 0.6945 None gnomAD-4.0.0 1.20032E-06
2659 39 L/P 58 None 0.1871 None gnomAD-4.0.0 6.84084E-07
2659 39 L/R 58 None 0.1871 None gnomAD-4.0.0 6.84084E-07
2659 39 L/V 58 rs747894424 0.1871 None gnomAD-2.1.1 2.79E-05
2659 39 L/V 58 rs747894424 0.1871 None gnomAD-3.1.2 6.57E-06
2659 39 L/V 58 rs747894424 0.1871 None gnomAD-4.0.0 2.16849E-05
2661 41 L/P 70 rs781227223 0.4886 None gnomAD-2.1.1 3.98E-06
2661 41 L/P 70 rs781227223 0.4886 None gnomAD-3.1.2 6.57E-06
2661 41 L/P 70 rs781227223 0.4886 None gnomAD-4.0.0 2.5612E-06
2663 43 N/D 111 rs372885019 1.1554 None gnomAD-2.1.1 3.98E-06
2663 43 N/D 111 rs372885019 1.1554 None gnomAD-3.1.2 6.57E-06
2663 43 N/D 111 rs372885019 1.1554 None gnomAD-4.0.0 3.84198E-06
2663 43 N/S 111 rs1184494680 1.1554 None gnomAD-2.1.1 3.98E-06
2663 43 N/S 111 rs1184494680 1.1554 None gnomAD-4.0.0 1.59057E-06
2665 45 I/M 121 rs751461803 0.1889 None gnomAD-2.1.1 3.98E-06
2665 45 I/M 121 rs751461803 0.1889 None gnomAD-4.0.0 1.5906E-06
2666 46 R/G 122 rs2091455237 0.3342 None gnomAD-4.0.0 2.73634E-06
2668 48 E/Q 125 rs766594353 0.3715 None gnomAD-2.1.1 3.98E-06
2668 48 E/Q 125 rs766594353 0.3715 None gnomAD-4.0.0 2.05226E-06
2669 49 S/F 127 rs1209017771 0.5392 None gnomAD-2.1.1 3.98E-06
2669 49 S/F 127 rs1209017771 0.5392 None gnomAD-4.0.0 1.59059E-06
2669 49 S/T 127 None 0.5392 None gnomAD-4.0.0 1.5906E-06
2670 50 D/N 130 rs1344075805 0.5565 None gnomAD-3.1.2 6.57E-06
2671 51 G/D 131 None 0.3594 None gnomAD-4.0.0 6.8409E-07
2671 51 G/V 131 rs758484720 0.3594 None gnomAD-2.1.1 3.98E-06
2671 51 G/V 131 rs758484720 0.3594 None gnomAD-4.0.0 6.8409E-07
2672 52 H/D 134 rs1257617585 0.4419 None gnomAD-2.1.1 3.98E-06
2672 52 H/D 134 rs1257617585 0.4419 None gnomAD-4.0.0 1.59058E-06
2673 53 K/Q 135 None 0.3290 None gnomAD-4.0.0 1.59058E-06
2673 53 K/R 135 rs1060500389 0.3290 None gnomAD-2.1.1 3.19E-05
2673 53 K/R 135 rs1060500389 0.3290 None gnomAD-3.1.2 6.57E-06
2673 53 K/R 135 rs1060500389 0.3290 None gnomAD-4.0.0 6.57125E-06
2674 54 R/T 136 rs542196734 0.1114 None gnomAD-2.1.1 3.98E-06
2674 54 R/T 136 rs542196734 0.1114 None gnomAD-3.1.2 6.57E-06
2674 54 R/T 136 rs542196734 0.1114 None 1000 genomes 1.99681E-04
2674 54 R/T 136 rs542196734 0.1114 None gnomAD-4.0.0 6.5684E-06
2675 55 R/G 137 rs375223745 0.2288 None gnomAD-3.1.2 6.57E-06
2675 55 R/G 137 rs375223745 0.2288 None gnomAD-4.0.0 2.56122E-06
2675 55 R/S 137 rs2154343309 0.2288 None gnomAD-4.0.0 1.20032E-06
2676 56 L/F 138 rs1411544745 0.0859 None gnomAD-2.1.1 7.96E-06
2676 56 L/F 138 rs1411544745 0.0859 None gnomAD-3.1.2 6.57E-06
2676 56 L/F 138 rs1411544745 0.0859 None gnomAD-4.0.0 7.43507E-06
2677 57 I/N 139 rs2091449758 0.1214 None gnomAD-4.0.0 1.36816E-06
2677 57 I/T 139 rs2091449758 0.1214 None gnomAD-4.0.0 2.05225E-06
2678 58 I/T 140 rs1312609443 0.1060 None gnomAD-4.0.0 1.59059E-06
2678 58 I/V 140 None 0.1060 None gnomAD-4.0.0 1.20032E-06
2679 59 A/T 141 rs762303238 0.2727 None gnomAD-2.1.1 7.96E-06
2679 59 A/T 141 rs762303238 0.2727 None gnomAD-4.0.0 6.36236E-06
2680 60 A/T 143 None 0.2862 None gnomAD-4.0.0 3.60097E-06
2681 61 T/A 144 rs1412458944 0.1151 None gnomAD-2.1.1 3.98E-06
2681 61 T/A 144 rs1412458944 0.1151 None gnomAD-4.0.0 1.59064E-06
2681 61 T/N 144 rs1298500274 0.1151 None gnomAD-2.1.1 3.18E-05
2681 61 T/N 144 rs1298500274 0.1151 None gnomAD-3.1.2 6.57E-06
2681 61 T/N 144 rs1298500274 0.1151 None gnomAD-4.0.0 6.57272E-06
2682 62 K/R 145 rs764471581 0.6049 None gnomAD-2.1.1 3.98E-06
2682 62 K/R 145 rs764471581 0.6049 None gnomAD-4.0.0 2.05226E-06
2682 62 K/T 145 None 0.6049 None gnomAD-4.0.0 6.84087E-07
2683 63 L/S 146 rs770445596 0.5260 None gnomAD-2.1.1 3.98E-06
2683 63 L/S 146 rs770445596 0.5260 None gnomAD-4.0.0 1.59061E-06
2683 63 L/V 146 rs761118672 0.5260 None gnomAD-2.1.1 3.98E-06
2683 63 L/V 146 rs761118672 0.5260 None gnomAD-3.1.2 6.57E-06
2683 63 L/V 146 rs761118672 0.5260 None gnomAD-4.0.0 2.56131E-06
2684 64 D/G 148 rs1008197005 0.8564 None gnomAD-3.1.2 3.29E-05
2684 64 D/G 148 rs1008197005 0.8564 None gnomAD-4.0.0 1.02447E-05
2685 65 D/H 149 None 0.2124 None gnomAD-3.1.2 6.57E-06
2685 65 D/H 149 None 0.2124 None gnomAD-4.0.0 6.57194E-06
2686 66 I/T 151 None 0.3591 None gnomAD-4.0.0 1.20032E-06
2686 66 I/V 151 rs756935554 0.3591 None gnomAD-2.1.1 3.98E-06
2686 66 I/V 151 rs756935554 0.3591 None gnomAD-4.0.0 9.57725E-06
2687 67 G/R 152 rs1396688224 0.1645 None gnomAD-2.1.1 3.18E-05
2687 67 G/R 152 rs1396688224 0.1645 None gnomAD-3.1.2 6.57E-06
2687 67 G/R 152 rs1396688224 0.1645 None gnomAD-4.0.0 6.57419E-06
2688 68 E/Q 153 rs748787636 0.3850 None gnomAD-2.1.1 3.98E-06
2688 68 E/Q 153 rs748787636 0.3850 None gnomAD-4.0.0 1.5906E-06
2690 70 T/I 155 rs374620001 0.1361 None gnomAD-2.1.1 5.76795E-04
2690 70 T/I 155 rs374620001 0.1361 None gnomAD-3.1.2 3.02313E-04
2690 70 T/I 155 rs374620001 0.1361 None 1000 genomes 1.79712E-03
2690 70 T/I 155 rs374620001 0.1361 None gnomAD-4.0.0 2.10646E-04
2691 71 Y/D 156 rs1257930872 0.1135 None gnomAD-4.0.0 3.18125E-06
2691 71 Y/H 156 None 0.1135 None gnomAD-4.0.0 1.59062E-06
2692 72 K/N 157 None 0.3944 None gnomAD-4.0.0 8.20914E-06
2693 73 V/A 158 rs780868304 0.2548 None gnomAD-2.1.1 7.96E-06
2693 73 V/A 158 rs780868304 0.2548 None gnomAD-4.0.0 1.505E-05
2693 73 V/M 158 rs1349732520 0.2548 None gnomAD-2.1.1 3.98E-06
2693 73 V/M 158 rs1349732520 0.2548 None gnomAD-4.0.0 1.59064E-06
2694 74 A/S 159 rs1230162125 0.5791 None gnomAD-2.1.1 3.98E-06
2694 74 A/S 159 rs1230162125 0.5791 None gnomAD-3.1.2 6.57E-06
2694 74 A/S 159 rs1230162125 0.5791 None gnomAD-4.0.0 6.57229E-06
2694 74 A/V 159 rs754758405 0.5791 None gnomAD-2.1.1 7.96E-06
2694 74 A/V 159 rs754758405 0.5791 None gnomAD-4.0.0 3.18134E-06
2695 75 T/A 161 None 0.9944 None gnomAD-4.0.0 1.36819E-06
2695 75 T/S 161 rs780082683 0.9944 None gnomAD-2.1.1 3.98E-06
2695 75 T/S 161 rs780082683 0.9944 None gnomAD-3.1.2 6.57E-06
2695 75 T/S 161 rs780082683 0.9944 None gnomAD-4.0.0 1.36307E-05
2696 76 S/P 162 None 0.3937 None gnomAD-4.0.0 1.59067E-06
2697 77 K/I 163 None 0.5784 None gnomAD-4.0.0 6.84104E-07
2697 77 K/R 163 None 0.5784 None gnomAD-4.0.0 6.84104E-07
2699 79 S/A 171 rs373857878 0.2855 None gnomAD-2.1.1 7.96E-06
2699 79 S/A 171 rs373857878 0.2855 None gnomAD-3.1.2 1.31E-05
2699 79 S/A 171 rs373857878 0.2855 None gnomAD-4.0.0 2.85014E-05
2700 80 A/D 172 rs1381263123 0.0851 None gnomAD-2.1.1 3.98E-06
2700 80 A/D 172 rs1381263123 0.0851 None gnomAD-4.0.0 3.18146E-06
2701 81 K/N 173 rs750526009 0.5798 None gnomAD-2.1.1 3.98E-06
2701 81 K/N 173 rs750526009 0.5798 None gnomAD-4.0.0 1.59076E-06
2701 81 K/T 173 rs556548772 0.5798 None 1000 genomes 1.99681E-04
2702 82 L/F 174 None 0.1097 None gnomAD-4.0.0 6.84113E-07
2702 82 L/V 174 None 0.1097 None gnomAD-4.0.0 6.84113E-07
2703 83 K/E 175 rs2091436984 0.4191 None gnomAD-3.1.2 6.57E-06
2703 83 K/E 175 rs2091436984 0.4191 None gnomAD-4.0.0 1.85881E-06
2703 83 K/N 175 rs1561231770 0.4191 None gnomAD-2.1.1 3.98E-06
2703 83 K/T 175 rs2091436696 0.4191 None gnomAD-4.0.0 1.59078E-06
2704 84 V/A 176 rs1458291508 0.1254 None gnomAD-2.1.1 3.98E-06
2704 84 V/A 176 rs1458291508 0.1254 None gnomAD-4.0.0 1.59079E-06
2704 84 V/D 176 None 0.1254 None gnomAD-4.0.0 1.59079E-06
2704 84 V/F 176 None 0.1254 None gnomAD-4.0.0 1.59079E-06
2705 85 E/K 177 None 0.3692 None gnomAD-4.0.0 2.40064E-06
2706 86 A/D 178 None 0.2941 None gnomAD-4.0.0 1.59984E-06