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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 90
S P P G P P I P R V T D T S S T T I E L E W E P P A F N G G G E I V G Y F V D K Q L V G T N E W S R C T E K M I K V R Q Y T V K E I R E G A D Y K L R V S A V N A A G E G P P G E T Q P V T V A E
S P P G P P I P R V T D T S S T T I E L E W E P P A F N G G G E I V G Y F V D K Q L V G T N E W S R C T E K M I K V R Q Y T V K E I R E G A D Y K L R V S A V N A A G E G P P G E T Q P V T V A E

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
17569 1 S/Y 1 rs756689649 0.6668 None gnomAD-2.1.1 1.64E-05
17569 1 S/Y 1 rs756689649 0.6668 None gnomAD-3.1.2 2.63E-05
17569 1 S/Y 1 rs756689649 0.6668 None gnomAD-4.0.0 9.92872E-06
17570 2 P/H 2 None 0.4701 None gnomAD-4.0.0 1.59588E-06
17570 2 P/L 2 rs2055350149 0.4701 None gnomAD-4.0.0 3.19178E-06
17571 3 P/S 3 None 0.1313 None gnomAD-4.0.0 1.59568E-06
17572 4 G/E 4 rs867992198 0.1501 None gnomAD-3.1.2 6.58E-06
17572 4 G/E 4 rs867992198 0.1501 None gnomAD-4.0.0 6.57929E-06
17574 6 P/A 6 rs759901950 0.1202 None gnomAD-2.1.1 4.06E-06
17574 6 P/S 6 rs759901950 0.1202 None gnomAD-2.1.1 8.12E-06
17574 6 P/S 6 rs759901950 0.1202 None gnomAD-4.0.0 3.18914E-06
17576 8 P/L 9 None 0.2995 None gnomAD-4.0.0 1.36953E-06
17576 8 P/S 9 None 0.2995 None gnomAD-4.0.0 4.79342E-06
17578 10 V/A 12 rs764884631 0.3100 None gnomAD-2.1.1 4.05E-06
17578 10 V/A 12 rs764884631 0.3100 None gnomAD-4.0.0 1.59401E-06
17582 14 S/I 16 None 0.2345 None gnomAD-4.0.0 1.20032E-06
17584 16 T/A 18 rs2055342322 0.4890 None gnomAD-3.1.2 1.32E-05
17584 16 T/A 18 rs2055342322 0.4890 None gnomAD-4.0.0 1.31577E-05
17584 16 T/I 18 rs776113556 0.4890 None gnomAD-2.1.1 1.44E-05
17584 16 T/I 18 rs776113556 0.4890 None gnomAD-3.1.2 6.58E-06
17584 16 T/I 18 rs776113556 0.4890 None gnomAD-4.0.0 8.68159E-06
17586 18 I/T 20 rs969641276 0.1132 None gnomAD-4.0.0 1.20032E-06
17586 18 I/V 20 None 0.1132 None gnomAD-4.0.0 1.59345E-06
17587 19 E/K 21 rs1271096467 0.1659 None gnomAD-2.1.1 3.19E-05
17587 19 E/K 21 rs1271096467 0.1659 None gnomAD-3.1.2 6.58E-06
17587 19 E/K 21 rs1271096467 0.1659 None gnomAD-4.0.0 6.58068E-06
17592 24 P/A 26 rs541127460 0.5452 None gnomAD-3.1.2 6.58E-06
17592 24 P/A 26 rs541127460 0.5452 None gnomAD-4.0.0 6.57912E-06
17592 24 P/H 26 None 0.5452 None gnomAD-4.0.0 6.84579E-07
17592 24 P/L 26 rs1559744241 0.5452 None gnomAD-2.1.1 4.04E-06
17592 24 P/L 26 rs1559744241 0.5452 None gnomAD-4.0.0 1.36916E-06
17592 24 P/S 26 None 0.5452 None gnomAD-4.0.0 6.84586E-07
17592 24 P/T 26 rs541127460 0.5452 None gnomAD-2.1.1 2.42E-05
17592 24 P/T 26 rs541127460 0.5452 None gnomAD-3.1.2 6.58E-06
17592 24 P/T 26 rs541127460 0.5452 None 1000 genomes 1.99681E-04
17592 24 P/T 26 rs541127460 0.5452 None gnomAD-4.0.0 1.17804E-05
17594 26 A/G 28 rs1267329743 0.6657 None gnomAD-3.1.2 6.58E-06
17594 26 A/G 28 rs1267329743 0.6657 None gnomAD-4.0.0 6.57531E-06
17594 26 A/V 28 rs1267329743 0.6657 None gnomAD-4.0.0 3.18648E-06
17595 27 F/V 29 rs868539342 0.3147 None gnomAD-4.0.0 1.59314E-06
17596 28 N/K 30 rs375966756 0.3259 None gnomAD-2.1.1 1.43E-05
17596 28 N/K 30 rs375966756 0.3259 None gnomAD-3.1.2 3.29E-05
17596 28 N/K 30 rs375966756 0.3259 None gnomAD-4.0.0 1.73603E-05
17596 28 N/S 30 rs760584088 0.3259 None gnomAD-2.1.1 4.03E-06
17596 28 N/S 30 rs760584088 0.3259 None gnomAD-3.1.2 1.32E-05
17596 28 N/S 30 rs760584088 0.3259 None gnomAD-4.0.0 2.17018E-05
17597 29 G/V 31 rs1205224939 0.1680 None gnomAD-4.0.0 1.59309E-06
17598 30 G/D 32 rs1259638481 0.6795 None gnomAD-2.1.1 8.06E-06
17598 30 G/D 32 rs1259638481 0.6795 None gnomAD-4.0.0 2.05361E-06
17598 30 G/R 32 rs771936047 0.6795 None gnomAD-2.1.1 1.21E-05
17598 30 G/R 32 rs771936047 0.6795 None gnomAD-3.1.2 6.58E-06
17598 30 G/R 32 rs771936047 0.6795 None gnomAD-4.0.0 5.58038E-06
17598 30 G/S 32 None 0.6795 None gnomAD-4.0.0 6.84535E-07
17599 31 G/E 33 None 0.2887 None gnomAD-4.0.0 1.59294E-06
17600 32 E/K 34 rs745629273 0.9356 None gnomAD-2.1.1 4.03E-06
17600 32 E/K 34 rs745629273 0.9356 None gnomAD-4.0.0 2.05356E-06
17601 33 I/T 35 rs774032287 0.1875 None gnomAD-2.1.1 1.21E-05
17601 33 I/T 35 rs774032287 0.1875 None gnomAD-3.1.2 6.58E-06
17601 33 I/T 35 rs774032287 0.1875 None gnomAD-4.0.0 6.82059E-06
17602 34 V/I 36 None 0.3714 None gnomAD-4.0.0 6.84508E-07
17602 34 V/L 36 rs771120988 0.3714 None gnomAD-2.1.1 8.06E-06
17602 34 V/L 36 rs771120988 0.3714 None gnomAD-4.0.0 1.36902E-06
17606 38 V/I 40 rs2055325123 0.0990 None gnomAD-4.0.0 1.59286E-06
17607 39 D/H 41 rs1381094642 0.1903 None gnomAD-2.1.1 4.03E-06
17609 41 Q/E 43 rs777990934 0.0586 None gnomAD-2.1.1 8.05E-06
17609 41 Q/E 43 rs777990934 0.0586 None gnomAD-4.0.0 3.18572E-06
17609 41 Q/K 43 None 0.0586 None gnomAD-4.0.0 1.59286E-06
17609 41 Q/L 43 rs368820294 0.0586 None gnomAD-2.1.1 1.00062E-04
17609 41 Q/L 43 rs368820294 0.0586 None gnomAD-3.1.2 1.77681E-04
17609 41 Q/L 43 rs368820294 0.0586 None gnomAD-4.0.0 2.15749E-04
17611 43 V/A 50 rs781744658 0.3419 None gnomAD-2.1.1 4.02E-06
17611 43 V/A 50 rs781744658 0.3419 None gnomAD-4.0.0 4.77852E-06
17611 43 V/F 50 rs748265704 0.3419 None gnomAD-3.1.2 6.58E-06
17611 43 V/F 50 rs748265704 0.3419 None gnomAD-4.0.0 6.58224E-06
17611 43 V/I 50 rs748265704 0.3419 None gnomAD-2.1.1 1.43E-05
17611 43 V/I 50 rs748265704 0.3419 None gnomAD-3.1.2 2.63E-05
17611 43 V/I 50 rs748265704 0.3419 None gnomAD-4.0.0 1.24004E-05
17613 45 T/I 60 None 0.2858 None gnomAD-4.0.0 1.20032E-06
17613 45 T/S 60 None 0.2858 None gnomAD-4.0.0 6.00161E-06
17614 46 N/D 63 None 0.7370 None gnomAD-4.0.0 1.20032E-06
17614 46 N/S 63 rs1162109348 0.7370 None gnomAD-2.1.1 3.19E-05
17614 46 N/S 63 rs1162109348 0.7370 None gnomAD-3.1.2 6.58E-06
17614 46 N/S 63 rs1162109348 0.7370 None gnomAD-4.0.0 6.5825E-06
17615 47 E/G 64 None 0.7024 None gnomAD-4.0.0 1.59276E-06
17616 48 W/C 65 rs755451227 0.2671 None gnomAD-2.1.1 1.21E-05
17616 48 W/C 65 rs755451227 0.2671 None gnomAD-4.0.0 4.10696E-06
17616 48 W/L 65 rs2055319182 0.2671 None gnomAD-4.0.0 1.59279E-06
17618 50 R/C 67 rs201213901 0.4502 None gnomAD-2.1.1 1.00373E-03
17618 50 R/C 67 rs201213901 0.4502 None gnomAD-3.1.2 8.29723E-04
17618 50 R/C 67 rs201213901 0.4502 None 1000 genomes 1.99681E-04
17618 50 R/C 67 rs201213901 0.4502 None gnomAD-4.0.0 1.32556E-03
17618 50 R/H 67 rs371538664 0.4502 None gnomAD-2.1.1 1.8931E-04
17618 50 R/H 67 rs371538664 0.4502 None gnomAD-3.1.2 1.5803E-04
17618 50 R/H 67 rs371538664 0.4502 None gnomAD-4.0.0 1.34549E-04
17618 50 R/S 67 rs201213901 0.4502 None gnomAD-2.1.1 4.02E-06
17618 50 R/S 67 rs201213901 0.4502 None gnomAD-3.1.2 6.59E-06
17618 50 R/S 67 rs201213901 0.4502 None gnomAD-4.0.0 1.05408E-05
17619 51 C/R 68 rs2055315972 0.1144 None gnomAD-3.1.2 6.58E-06
17619 51 C/R 68 rs2055315972 0.1144 None gnomAD-4.0.0 6.58172E-06
17620 52 T/I 69 None 0.1585 None gnomAD-4.0.0 1.20032E-06
17620 52 T/R 69 rs1559743128 0.1585 None gnomAD-4.0.0 1.20032E-06
17621 53 E/K 70 None 0.8734 None gnomAD-4.0.0 1.20032E-06
17621 53 E/Q 70 None 0.8734 None gnomAD-4.0.0 3.60097E-06
17622 54 K/M 72 rs763564746 0.5427 None gnomAD-2.1.1 3.19E-05
17622 54 K/M 72 rs763564746 0.5427 None gnomAD-3.1.2 1.32E-05
17622 54 K/M 72 rs763564746 0.5427 None gnomAD-4.0.0 1.31624E-05
17622 54 K/N 72 None 0.5427 None gnomAD-4.0.0 2.40064E-06
17622 54 K/R 72 rs763564746 0.5427 None gnomAD-2.1.1 4.02E-06
17622 54 K/R 72 rs763564746 0.5427 None gnomAD-4.0.0 1.84808E-05
17623 55 M/T 75 rs2055311301 0.2614 None gnomAD-3.1.2 6.58E-06
17623 55 M/T 75 rs2055311301 0.2614 None gnomAD-4.0.0 2.56481E-06
17626 58 V/I 88 None 0.3736 None gnomAD-4.0.0 1.20032E-06
17627 59 R/C 89 rs767433978 0.3929 None gnomAD-2.1.1 8.04E-06
17627 59 R/C 89 rs767433978 0.3929 None gnomAD-3.1.2 1.32E-05
17627 59 R/C 89 rs767433978 0.3929 None gnomAD-4.0.0 4.34014E-06
17627 59 R/G 89 None 0.3929 None gnomAD-4.0.0 6.84474E-07
17627 59 R/H 89 rs536494011 0.3929 None gnomAD-2.1.1 5.36E-05
17627 59 R/H 89 rs536494011 0.3929 None gnomAD-3.1.2 2.63E-05
17627 59 R/H 89 rs536494011 0.3929 None 1000 genomes 1.99681E-04
17627 59 R/H 89 rs536494011 0.3929 None gnomAD-4.0.0 3.3478E-05
17628 60 Q/R 90 rs1326205439 0.4735 None gnomAD-4.0.0 1.59267E-06
17629 61 Y/C 91 rs1039650213 0.2255 None gnomAD-3.1.2 6.58E-06
17629 61 Y/C 91 rs1039650213 0.2255 None gnomAD-4.0.0 3.04544E-06
17629 61 Y/F 91 None 0.2255 None gnomAD-4.0.0 1.20032E-06
17630 62 T/A 92 rs1384115571 0.2635 None gnomAD-2.1.1 8.04E-06
17630 62 T/A 92 rs1384115571 0.2635 None gnomAD-4.0.0 4.77814E-06
17630 62 T/I 92 None 0.2635 None gnomAD-4.0.0 6.84481E-07
17630 62 T/N 92 rs774179004 0.2635 None gnomAD-2.1.1 8.05E-06
17630 62 T/N 92 rs774179004 0.2635 None gnomAD-4.0.0 2.73793E-06
17631 63 V/I 93 rs749503285 0.1317 None gnomAD-2.1.1 2.5E-05
17631 63 V/I 93 rs749503285 0.1317 None gnomAD-3.1.2 5.26E-05
17631 63 V/I 93 rs749503285 0.1317 None gnomAD-4.0.0 1.674E-05
17634 66 I/M 97 rs1219503783 0.0993 None gnomAD-2.1.1 3.19E-05
17634 66 I/M 97 rs1219503783 0.0993 None gnomAD-3.1.2 6.58E-06
17634 66 I/M 97 rs1219503783 0.0993 None gnomAD-4.0.0 6.58181E-06
17635 67 R/L 98 rs773522736 0.7826 None gnomAD-2.1.1 4.02E-06
17635 67 R/L 98 rs773522736 0.7826 None gnomAD-3.1.2 6.58E-06
17635 67 R/Q 98 rs773522736 0.7826 None gnomAD-2.1.1 3.19E-05
17635 67 R/Q 98 rs773522736 0.7826 None gnomAD-3.1.2 1.97E-05
17635 67 R/Q 98 rs773522736 0.7826 None gnomAD-4.0.0 8.05993E-06
17636 68 E/D 99 rs748175453 0.4746 None gnomAD-2.1.1 8.22E-05
17636 68 E/D 99 rs748175453 0.4746 None gnomAD-3.1.2 4.61E-05
17636 68 E/D 99 rs748175453 0.4746 None gnomAD-4.0.0 1.98384E-05
17637 69 G/D 100 None 0.3122 None gnomAD-4.0.0 1.20032E-06
17637 69 G/S 100 None 0.3122 None gnomAD-4.0.0 2.40064E-06
17638 70 A/T 102 rs573873239 0.1279 None gnomAD-2.1.1 1.21E-05
17638 70 A/T 102 rs573873239 0.1279 None gnomAD-3.1.2 6.58E-06
17638 70 A/T 102 rs573873239 0.1279 None 1000 genomes 1.99681E-04
17638 70 A/T 102 rs573873239 0.1279 None gnomAD-4.0.0 2.47978E-06
17638 70 A/V 102 None 0.1279 None gnomAD-4.0.0 6.84496E-07
17639 71 D/N 103 None 0.3575 None gnomAD-4.0.0 2.40064E-06
17641 73 K/E 105 rs1454839951 0.2572 None gnomAD-4.0.0 1.59271E-06
17641 73 K/R 105 rs747537364 0.2572 None gnomAD-2.1.1 1.21E-05
17641 73 K/R 105 rs747537364 0.2572 None gnomAD-4.0.0 4.77817E-06
17642 74 L/F 106 None 0.1757 None gnomAD-4.0.0 1.20032E-06
17643 75 R/L 107 rs571636340 0.1719 None gnomAD-3.1.2 6.58E-06
17643 75 R/L 107 rs571636340 0.1719 None gnomAD-4.0.0 6.58146E-06
17643 75 R/Q 107 rs571636340 0.1719 None gnomAD-2.1.1 4.03E-06
17643 75 R/Q 107 rs571636340 0.1719 None gnomAD-3.1.2 1.32E-05
17643 75 R/Q 107 rs571636340 0.1719 None 1000 genomes 1.99681E-04
17643 75 R/Q 107 rs571636340 0.1719 None gnomAD-4.0.0 5.57973E-06
17643 75 R/W 107 rs375944265 0.1719 None gnomAD-2.1.1 7.51E-05
17643 75 R/W 107 rs375944265 0.1719 None gnomAD-3.1.2 2.96084E-04
17643 75 R/W 107 rs375944265 0.1719 None 1000 genomes 5.99042E-04
17643 75 R/W 107 rs375944265 0.1719 None gnomAD-4.0.0 5.33156E-05
17644 76 V/G 108 rs1490004465 0.1088 None gnomAD-2.1.1 4.03E-06
17644 76 V/G 108 rs1490004465 0.1088 None gnomAD-4.0.0 3.18555E-06
17645 77 S/R 109 rs763695128 0.1436 None gnomAD-2.1.1 8.05E-06
17645 77 S/R 109 rs763695128 0.1436 None gnomAD-4.0.0 2.73797E-06
17646 78 A/V 110 rs551439510 0.0899 None gnomAD-2.1.1 4.03E-06
17646 78 A/V 110 rs551439510 0.0899 None gnomAD-3.1.2 6.58E-06
17646 78 A/V 110 rs551439510 0.0899 None 1000 genomes 1.99681E-04
17646 78 A/V 110 rs551439510 0.0899 None gnomAD-4.0.0 6.57393E-06
17647 79 V/D 111 None 0.1286 None gnomAD-4.0.0 1.59277E-06
17647 79 V/I 111 rs2055289563 0.1286 None gnomAD-4.0.0 3.42244E-06
17648 80 N/S 112 rs752142832 0.1177 None gnomAD-2.1.1 4.03E-06
17648 80 N/S 112 rs752142832 0.1177 None gnomAD-4.0.0 6.16042E-06
17649 81 A/P 113 rs2055287229 0.7376 None gnomAD-3.1.2 6.58E-06
17650 82 A/S 114 None 0.4254 None gnomAD-4.0.0 6.84498E-07
17650 82 A/T 114 rs535008556 0.4254 None gnomAD-2.1.1 1.48987E-04
17650 82 A/T 114 rs535008556 0.4254 None gnomAD-3.1.2 6.58E-05
17650 82 A/T 114 rs535008556 0.4254 None 1000 genomes 1.99681E-04
17650 82 A/T 114 rs535008556 0.4254 None gnomAD-4.0.0 9.29935E-05
17652 84 E/A 117 None 0.7178 None gnomAD-4.0.0 1.59287E-06
17652 84 E/D 117 rs1325497507 0.7178 None gnomAD-2.1.1 8.05E-06
17652 84 E/D 117 rs1325497507 0.7178 None gnomAD-4.0.0 3.18571E-06
17652 84 E/K 117 None 0.7178 None gnomAD-4.0.0 3.18571E-06
17653 85 G/E 118 rs2055283494 0.2000 None gnomAD-3.1.2 6.58E-06
17653 85 G/E 118 rs2055283494 0.2000 None gnomAD-4.0.0 2.0303E-06
17653 85 G/R 118 rs766366983 0.2000 None gnomAD-2.1.1 4.03E-06
17653 85 G/R 118 rs766366983 0.2000 None gnomAD-4.0.0 1.59286E-06
17654 86 P/L 119 rs762800771 0.5046 None gnomAD-2.1.1 2.82E-05
17654 86 P/L 119 rs762800771 0.5046 None gnomAD-3.1.2 1.97E-05
17654 86 P/L 119 rs762800771 0.5046 None gnomAD-4.0.0 1.17806E-05
17654 86 P/R 119 rs762800771 0.5046 None gnomAD-2.1.1 3.19E-05
17654 86 P/R 119 rs762800771 0.5046 None gnomAD-3.1.2 6.58E-06
17654 86 P/R 119 rs762800771 0.5046 None gnomAD-4.0.0 6.58172E-06
17655 87 P/H 120 None 0.3983 None gnomAD-4.0.0 6.84523E-07
17655 87 P/R 120 None 0.3983 None gnomAD-4.0.0 2.73809E-06
17656 88 G/R 121 rs1269389543 0.2122 None gnomAD-3.1.2 6.58E-06
17656 88 G/R 121 rs1269389543 0.2122 None gnomAD-4.0.0 6.20024E-06
17658 90 T/K 123 rs1576367047 0.2841 None gnomAD-3.1.2 6.58E-06
17658 90 T/K 123 rs1576367047 0.2841 None gnomAD-4.0.0 6.57955E-06
17658 90 T/S 123 None 0.2841 None gnomAD-4.0.0 1.20032E-06
17660 92 P/L 126 None 0.3597 None gnomAD-4.0.0 2.40064E-06
17660 92 P/S 126 rs957490512 0.3597 None gnomAD-2.1.1 4.03E-06
17660 92 P/S 126 rs957490512 0.3597 None gnomAD-4.0.0 1.59297E-06
17661 93 V/D 127 None 0.3394 None gnomAD-4.0.0 1.20032E-06
17662 94 T/A 129 None 0.3133 None gnomAD-4.0.0 1.59297E-06
17665 97 E/D 132 rs768659420 1.3495 None gnomAD-2.1.1 4.03E-06
17665 97 E/D 132 rs768659420 1.3495 None gnomAD-4.0.0 1.59312E-06
17665 97 E/K 132 None 1.3495 None gnomAD-4.0.0 1.59314E-06