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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
I K I I R G L R D L T C T E T Q N V V F E V E L S H S G I D V L W N F K D K E I K P S S K Y K I E A H G K I Y K L T V L N M M K D D E G K Y T F Y A G E N M T S G K L T V A G G 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 0.3760 None gnomAD-2.1.1 6.37E-05
2621 1 A/D 1 rs753441258 0.3760 None gnomAD-3.1.2 6.57E-06
2621 1 A/D 1 rs753441258 0.3760 None gnomAD-4.0.0 9.91497E-06
2621 1 A/V 1 rs753441258 0.3760 None gnomAD-2.1.1 1.59E-05
2621 1 A/V 1 rs753441258 0.3760 None gnomAD-3.1.2 6.57E-06
2621 1 A/V 1 rs753441258 0.3760 None gnomAD-4.0.0 8.6756E-06
2622 2 I/V 3 rs148394362 0.2442 None gnomAD-2.1.1 1.06E-05
2622 2 I/V 3 rs148394362 0.2442 None gnomAD-3.1.2 1.97E-05
2622 2 I/V 3 rs148394362 0.2442 None 1000 genomes 1.99681E-04
2622 2 I/V 3 rs148394362 0.2442 None gnomAD-4.0.0 7.68443E-06
2624 4 K/Q 5 None 0.4310 None gnomAD-4.0.0 1.59111E-06
2624 4 K/R 5 rs1163440648 0.4310 None gnomAD-3.1.2 6.57E-06
2624 4 K/R 5 rs1163440648 0.4310 None gnomAD-4.0.0 5.07456E-06
2625 5 P/S 7 None 0.5787 None gnomAD-4.0.0 2.40064E-06
2627 7 T/A 9 rs1451021817 0.7382 None gnomAD-2.1.1 3.98E-06
2627 7 T/A 9 rs1451021817 0.7382 None gnomAD-4.0.0 1.59111E-06
2628 8 D/N 11 rs1401260023 0.4800 None gnomAD-3.1.2 6.57E-06
2628 8 D/N 11 rs1401260023 0.4800 None gnomAD-4.0.0 3.84271E-06
2629 9 Q/H 13 rs1360901635 0.2837 None gnomAD-3.1.2 1.31E-05
2629 9 Q/H 13 rs1360901635 0.2837 None gnomAD-4.0.0 1.31432E-05
2630 10 T/S 14 rs2091468969 0.4586 None gnomAD-4.0.0 1.59105E-06
2631 11 V/I 16 rs766753906 0.1616 None gnomAD-2.1.1 3.89E-05
2631 11 V/I 16 rs766753906 0.1616 None gnomAD-3.1.2 6.57E-05
2631 11 V/I 16 rs766753906 0.1616 None gnomAD-4.0.0 3.03636E-05
2632 12 A/G 18 rs1210961482 0.2170 None gnomAD-2.1.1 3.98E-06
2632 12 A/G 18 rs1210961482 0.2170 None gnomAD-4.0.0 1.59103E-06
2632 12 A/T 18 None 0.2170 None gnomAD-4.0.0 3.18202E-06
2633 13 E/A 23 None 0.3508 None gnomAD-4.0.0 1.59102E-06
2634 14 S/P 24 rs1488243679 0.6242 None gnomAD-2.1.1 3.18E-05
2634 14 S/P 24 rs1488243679 0.6242 None gnomAD-3.1.2 1.97E-05
2634 14 S/P 24 rs1488243679 0.6242 None gnomAD-4.0.0 5.12341E-06
2635 15 Q/R 25 rs773524537 0.3909 None gnomAD-4.0.0 1.59093E-06
2636 16 E/V 26 rs1207371966 0.4403 None gnomAD-2.1.1 3.98E-06
2636 16 E/V 26 rs1207371966 0.4403 None gnomAD-4.0.0 3.18187E-06
2637 17 A/V 28 None 0.1403 None gnomAD-4.0.0 6.00161E-06
2638 18 V/E 29 None 0.3123 None gnomAD-4.0.0 3.1818E-06
2638 18 V/L 29 rs878870422 0.3123 None gnomAD-4.0.0 1.59093E-06
2639 19 F/C 30 rs794729580 0.1162 None gnomAD-4.0.0 2.05242E-06
2639 19 F/S 30 None 0.1162 None gnomAD-4.0.0 6.84139E-07
2640 20 E/G 31 rs1343185312 0.2823 None gnomAD-2.1.1 3.98E-06
2640 20 E/G 31 rs1343185312 0.2823 None gnomAD-4.0.0 2.05242E-06
2641 21 C/R 33 rs762210511 0.0905 None gnomAD-2.1.1 3.98E-06
2641 21 C/R 33 rs762210511 0.0905 None gnomAD-4.0.0 1.59087E-06
2642 22 E/G 34 None 0.2016 None gnomAD-4.0.0 1.20032E-06
2642 22 E/K 34 None 0.2016 None gnomAD-4.0.0 1.59089E-06
2643 23 V/F 35 rs886042338 0.1100 None gnomAD-2.1.1 3.98E-06
2643 23 V/F 35 rs886042338 0.1100 None gnomAD-4.0.0 1.20032E-06
2645 25 N/S 40 rs572589233 0.3723 None gnomAD-2.1.1 3.98E-06
2645 25 N/S 40 rs572589233 0.3723 None gnomAD-3.1.2 1.31E-05
2645 25 N/S 40 rs572589233 0.3723 None 1000 genomes 1.99681E-04
2645 25 N/S 40 rs572589233 0.3723 None gnomAD-4.0.0 3.09785E-06
2646 26 P/L 41 rs1303067253 0.2818 None gnomAD-2.1.1 3.98E-06
2646 26 P/L 41 rs1303067253 0.2818 None gnomAD-4.0.0 1.59081E-06
2647 27 D/Y 43 rs1252111410 0.8274 None gnomAD-2.1.1 3.18E-05
2647 27 D/Y 43 rs1252111410 0.8274 None gnomAD-3.1.2 1.97E-05
2647 27 D/Y 43 rs1252111410 0.8274 None gnomAD-4.0.0 1.97176E-05
2649 29 K/E 45 rs769037510 0.9505 None gnomAD-2.1.1 3.98E-06
2649 29 K/R 45 rs745433704 0.9505 None gnomAD-2.1.1 3.98E-06
2649 29 K/R 45 rs745433704 0.9505 None gnomAD-4.0.0 4.78879E-06
2651 31 E/K 47 rs770388400 0.3579 None gnomAD-2.1.1 2.39E-05
2651 31 E/K 47 rs770388400 0.3579 None gnomAD-3.1.2 6.57E-06
2651 31 E/K 47 rs770388400 0.3579 None gnomAD-4.0.0 1.85882E-05
2652 32 W/L 48 None 0.1614 None gnomAD-4.0.0 1.59066E-06
2654 34 R/K 50 rs147207100 0.1586 None gnomAD-2.1.1 2.75942E-04
2654 34 R/K 50 rs147207100 0.1586 None gnomAD-3.1.2 8.74425E-04
2654 34 R/K 50 rs147207100 0.1586 None 1000 genomes 3.99361E-04
2654 34 R/K 50 rs147207100 0.1586 None gnomAD-4.0.0 1.88972E-04
2654 34 R/S 50 rs1422023102 0.1586 None gnomAD-4.0.0 6.84097E-07
2655 35 D/Y 51 rs1379744895 0.4584 None gnomAD-2.1.1 3.98E-06
2655 35 D/Y 51 rs1379744895 0.4584 None gnomAD-4.0.0 1.59064E-06
2657 37 K/E 55 None 0.7447 None gnomAD-4.0.0 1.20032E-06
2658 38 H/L 56 None 0.6385 None gnomAD-4.0.0 1.20032E-06
2658 38 H/Q 56 rs1158775069 0.6385 None gnomAD-4.0.0 1.59059E-06
2658 38 H/Y 56 rs1023349406 0.6385 None gnomAD-4.0.0 1.20032E-06
2659 39 L/P 58 None 0.1620 None gnomAD-4.0.0 6.84084E-07
2659 39 L/R 58 None 0.1620 None gnomAD-4.0.0 6.84084E-07
2659 39 L/V 58 rs747894424 0.1620 None gnomAD-2.1.1 2.79E-05
2659 39 L/V 58 rs747894424 0.1620 None gnomAD-3.1.2 6.57E-06
2659 39 L/V 58 rs747894424 0.1620 None gnomAD-4.0.0 2.16849E-05
2661 41 L/P 70 rs781227223 0.4716 None gnomAD-2.1.1 3.98E-06
2661 41 L/P 70 rs781227223 0.4716 None gnomAD-3.1.2 6.57E-06
2661 41 L/P 70 rs781227223 0.4716 None gnomAD-4.0.0 2.5612E-06
2663 43 N/D 111 rs372885019 1.1411 None gnomAD-2.1.1 3.98E-06
2663 43 N/D 111 rs372885019 1.1411 None gnomAD-3.1.2 6.57E-06
2663 43 N/D 111 rs372885019 1.1411 None gnomAD-4.0.0 3.84198E-06
2663 43 N/S 111 rs1184494680 1.1411 None gnomAD-2.1.1 3.98E-06
2663 43 N/S 111 rs1184494680 1.1411 None gnomAD-4.0.0 1.59057E-06
2665 45 I/M 121 rs751461803 0.1744 None gnomAD-2.1.1 3.98E-06
2665 45 I/M 121 rs751461803 0.1744 None gnomAD-4.0.0 1.5906E-06
2666 46 R/G 122 rs2091455237 0.3319 None gnomAD-4.0.0 2.73634E-06
2668 48 E/Q 125 rs766594353 0.3162 None gnomAD-2.1.1 3.98E-06
2668 48 E/Q 125 rs766594353 0.3162 None gnomAD-4.0.0 2.05226E-06
2669 49 S/F 127 rs1209017771 0.5799 None gnomAD-2.1.1 3.98E-06
2669 49 S/F 127 rs1209017771 0.5799 None gnomAD-4.0.0 1.59059E-06
2669 49 S/T 127 None 0.5799 None gnomAD-4.0.0 1.5906E-06
2670 50 D/N 130 rs1344075805 0.5601 None gnomAD-3.1.2 6.57E-06
2671 51 G/D 131 None 0.3220 None gnomAD-4.0.0 6.8409E-07
2671 51 G/V 131 rs758484720 0.3220 None gnomAD-2.1.1 3.98E-06
2671 51 G/V 131 rs758484720 0.3220 None gnomAD-4.0.0 6.8409E-07
2672 52 H/D 134 rs1257617585 0.4877 None gnomAD-2.1.1 3.98E-06
2672 52 H/D 134 rs1257617585 0.4877 None gnomAD-4.0.0 1.59058E-06
2673 53 K/Q 135 None 0.3144 None gnomAD-4.0.0 1.59058E-06
2673 53 K/R 135 rs1060500389 0.3144 None gnomAD-2.1.1 3.19E-05
2673 53 K/R 135 rs1060500389 0.3144 None gnomAD-3.1.2 6.57E-06
2673 53 K/R 135 rs1060500389 0.3144 None gnomAD-4.0.0 6.57125E-06
2674 54 R/T 136 rs542196734 0.1018 None gnomAD-2.1.1 3.98E-06
2674 54 R/T 136 rs542196734 0.1018 None gnomAD-3.1.2 6.57E-06
2674 54 R/T 136 rs542196734 0.1018 None 1000 genomes 1.99681E-04
2674 54 R/T 136 rs542196734 0.1018 None gnomAD-4.0.0 6.5684E-06
2675 55 R/G 137 rs375223745 0.1970 None gnomAD-3.1.2 6.57E-06
2675 55 R/G 137 rs375223745 0.1970 None gnomAD-4.0.0 2.56122E-06
2675 55 R/S 137 rs2154343309 0.1970 None gnomAD-4.0.0 1.20032E-06
2676 56 L/F 138 rs1411544745 0.0786 None gnomAD-2.1.1 7.96E-06
2676 56 L/F 138 rs1411544745 0.0786 None gnomAD-3.1.2 6.57E-06
2676 56 L/F 138 rs1411544745 0.0786 None gnomAD-4.0.0 7.43507E-06
2677 57 I/N 139 rs2091449758 0.1261 None gnomAD-4.0.0 1.36816E-06
2677 57 I/T 139 rs2091449758 0.1261 None gnomAD-4.0.0 2.05225E-06
2678 58 I/T 140 rs1312609443 0.0902 None gnomAD-4.0.0 1.59059E-06
2678 58 I/V 140 None 0.0902 None gnomAD-4.0.0 1.20032E-06
2679 59 A/T 141 rs762303238 0.2646 None gnomAD-2.1.1 7.96E-06
2679 59 A/T 141 rs762303238 0.2646 None gnomAD-4.0.0 6.36236E-06
2680 60 A/T 143 None 0.3127 None gnomAD-4.0.0 3.60097E-06
2681 61 T/A 144 rs1412458944 0.1040 None gnomAD-2.1.1 3.98E-06
2681 61 T/A 144 rs1412458944 0.1040 None gnomAD-4.0.0 1.59064E-06
2681 61 T/N 144 rs1298500274 0.1040 None gnomAD-2.1.1 3.18E-05
2681 61 T/N 144 rs1298500274 0.1040 None gnomAD-3.1.2 6.57E-06
2681 61 T/N 144 rs1298500274 0.1040 None gnomAD-4.0.0 6.57272E-06
2682 62 K/R 145 rs764471581 0.5717 None gnomAD-2.1.1 3.98E-06
2682 62 K/R 145 rs764471581 0.5717 None gnomAD-4.0.0 2.05226E-06
2682 62 K/T 145 None 0.5717 None gnomAD-4.0.0 6.84087E-07
2683 63 L/S 146 rs770445596 0.4670 None gnomAD-2.1.1 3.98E-06
2683 63 L/S 146 rs770445596 0.4670 None gnomAD-4.0.0 1.59061E-06
2683 63 L/V 146 rs761118672 0.4670 None gnomAD-2.1.1 3.98E-06
2683 63 L/V 146 rs761118672 0.4670 None gnomAD-3.1.2 6.57E-06
2683 63 L/V 146 rs761118672 0.4670 None gnomAD-4.0.0 2.56131E-06
2684 64 D/G 148 rs1008197005 0.7384 None gnomAD-3.1.2 3.29E-05
2684 64 D/G 148 rs1008197005 0.7384 None gnomAD-4.0.0 1.02447E-05
2685 65 D/H 149 None 0.1811 None gnomAD-3.1.2 6.57E-06
2685 65 D/H 149 None 0.1811 None gnomAD-4.0.0 6.57194E-06
2686 66 I/T 151 None 0.3429 None gnomAD-4.0.0 1.20032E-06
2686 66 I/V 151 rs756935554 0.3429 None gnomAD-2.1.1 3.98E-06
2686 66 I/V 151 rs756935554 0.3429 None gnomAD-4.0.0 9.57725E-06
2687 67 G/R 152 rs1396688224 0.1464 None gnomAD-2.1.1 3.18E-05
2687 67 G/R 152 rs1396688224 0.1464 None gnomAD-3.1.2 6.57E-06
2687 67 G/R 152 rs1396688224 0.1464 None gnomAD-4.0.0 6.57419E-06
2688 68 E/Q 153 rs748787636 0.3032 None gnomAD-2.1.1 3.98E-06
2688 68 E/Q 153 rs748787636 0.3032 None gnomAD-4.0.0 1.5906E-06
2690 70 T/I 155 rs374620001 0.1535 None gnomAD-2.1.1 5.76795E-04
2690 70 T/I 155 rs374620001 0.1535 None gnomAD-3.1.2 3.02313E-04
2690 70 T/I 155 rs374620001 0.1535 None 1000 genomes 1.79712E-03
2690 70 T/I 155 rs374620001 0.1535 None gnomAD-4.0.0 2.10646E-04
2691 71 Y/D 156 rs1257930872 0.1027 None gnomAD-4.0.0 3.18125E-06
2691 71 Y/H 156 None 0.1027 None gnomAD-4.0.0 1.59062E-06
2692 72 K/N 157 None 0.3921 None gnomAD-4.0.0 8.20914E-06
2693 73 V/A 158 rs780868304 0.1676 None gnomAD-2.1.1 7.96E-06
2693 73 V/A 158 rs780868304 0.1676 None gnomAD-4.0.0 1.505E-05
2693 73 V/M 158 rs1349732520 0.1676 None gnomAD-2.1.1 3.98E-06
2693 73 V/M 158 rs1349732520 0.1676 None gnomAD-4.0.0 1.59064E-06
2694 74 A/S 159 rs1230162125 0.5506 None gnomAD-2.1.1 3.98E-06
2694 74 A/S 159 rs1230162125 0.5506 None gnomAD-3.1.2 6.57E-06
2694 74 A/S 159 rs1230162125 0.5506 None gnomAD-4.0.0 6.57229E-06
2694 74 A/V 159 rs754758405 0.5506 None gnomAD-2.1.1 7.96E-06
2694 74 A/V 159 rs754758405 0.5506 None gnomAD-4.0.0 3.18134E-06
2695 75 T/A 161 None 1.0092 None gnomAD-4.0.0 1.36819E-06
2695 75 T/S 161 rs780082683 1.0092 None gnomAD-2.1.1 3.98E-06
2695 75 T/S 161 rs780082683 1.0092 None gnomAD-3.1.2 6.57E-06
2695 75 T/S 161 rs780082683 1.0092 None gnomAD-4.0.0 1.36307E-05
2696 76 S/P 162 None 0.2350 None gnomAD-4.0.0 1.59067E-06
2697 77 K/I 163 None 0.7416 None gnomAD-4.0.0 6.84104E-07
2697 77 K/R 163 None 0.7416 None gnomAD-4.0.0 6.84104E-07
2699 79 S/A 171 rs373857878 0.2958 None gnomAD-2.1.1 7.96E-06
2699 79 S/A 171 rs373857878 0.2958 None gnomAD-3.1.2 1.31E-05
2699 79 S/A 171 rs373857878 0.2958 None gnomAD-4.0.0 2.85014E-05
2700 80 A/D 172 rs1381263123 0.0812 None gnomAD-2.1.1 3.98E-06
2700 80 A/D 172 rs1381263123 0.0812 None gnomAD-4.0.0 3.18146E-06
2701 81 K/N 173 rs750526009 0.4681 None gnomAD-2.1.1 3.98E-06
2701 81 K/N 173 rs750526009 0.4681 None gnomAD-4.0.0 1.59076E-06
2701 81 K/T 173 rs556548772 0.4681 None 1000 genomes 1.99681E-04
2702 82 L/F 174 None 0.1229 None gnomAD-4.0.0 6.84113E-07
2702 82 L/V 174 None 0.1229 None gnomAD-4.0.0 6.84113E-07
2703 83 K/E 175 rs2091436984 0.4249 None gnomAD-3.1.2 6.57E-06
2703 83 K/E 175 rs2091436984 0.4249 None gnomAD-4.0.0 1.85881E-06
2703 83 K/N 175 rs1561231770 0.4249 None gnomAD-2.1.1 3.98E-06
2703 83 K/T 175 rs2091436696 0.4249 None gnomAD-4.0.0 1.59078E-06
2704 84 V/A 176 rs1458291508 0.1249 None gnomAD-2.1.1 3.98E-06
2704 84 V/A 176 rs1458291508 0.1249 None gnomAD-4.0.0 1.59079E-06
2704 84 V/D 176 None 0.1249 None gnomAD-4.0.0 1.59079E-06
2704 84 V/F 176 None 0.1249 None gnomAD-4.0.0 1.59079E-06
2705 85 E/K 177 None 0.5112 None gnomAD-4.0.0 2.40064E-06
2706 86 A/D 178 None 0.5664 None gnomAD-4.0.0 1.59984E-06