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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
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

The data displayed in the table aims to be as complete as possible and contains information for all available sources including different versions of the same source, for example, different sources of gnomAD. To avoid seeing multiple entries for the same variant, we recommend to sort by Source first.

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 0.4588 None gnomAD-4.0.0 1.59105E-06
2631 11 V/I 16 rs766753906 0.1741 None gnomAD-2.1.1 3.89E-05
2631 11 V/I 16 rs766753906 0.1741 None gnomAD-3.1.2 6.57E-05
2631 11 V/I 16 rs766753906 0.1741 None gnomAD-4.0.0 3.03636E-05
2632 12 A/G 18 rs1210961482 0.1936 None gnomAD-2.1.1 3.98E-06
2632 12 A/G 18 rs1210961482 0.1936 None gnomAD-4.0.0 1.59103E-06
2632 12 A/T 18 None 0.1936 None gnomAD-4.0.0 3.18202E-06
2633 13 E/A 23 None 0.3519 None gnomAD-4.0.0 1.59102E-06
2634 14 S/P 24 rs1488243679 0.5834 None gnomAD-2.1.1 3.18E-05
2634 14 S/P 24 rs1488243679 0.5834 None gnomAD-3.1.2 1.97E-05
2634 14 S/P 24 rs1488243679 0.5834 None gnomAD-4.0.0 5.12341E-06
2635 15 Q/R 25 rs773524537 0.4020 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 0.2818 None gnomAD-2.1.1 7.96E-06
2679 59 A/T 141 rs762303238 0.2818 None gnomAD-4.0.0 6.36236E-06
2680 60 A/T 143 None 0.2981 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 0.4754 None gnomAD-4.0.0 2.40064E-06
2706 86 A/D 178 None 0.6771 None gnomAD-4.0.0 1.59984E-06