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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

Map SAVs to Structure

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