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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
7608 1 P/S 1 None 0.1335 None gnomAD-4.0.0 1.64723E-06
7609 2 K/N 2 None 0.7006 None gnomAD-4.0.0 6.93103E-07
7609 2 K/R 2 None 0.7006 None gnomAD-4.0.0 2.40064E-06
7611 4 V/I 4 rs2078303189 0.5747 None gnomAD-4.0.0 1.63227E-06
7611 4 V/L 4 None 0.5747 None gnomAD-4.0.0 1.63227E-06
7612 5 K/E 5 rs1553908654 0.4308 None gnomAD-2.1.1 4.15E-06
7612 5 K/E 5 rs1553908654 0.4308 None gnomAD-4.0.0 6.9122E-07
7613 6 K/Q 7 rs1360753746 0.6351 None gnomAD-2.1.1 4.12E-06
7614 7 L/S 8 None 0.1930 None gnomAD-4.0.0 2.7597E-06
7615 8 E/D 9 rs1422183428 0.7727 None gnomAD-2.1.1 4.09E-06
7615 8 E/D 9 rs1422183428 0.7727 None gnomAD-4.0.0 1.62079E-06
7619 12 V/L 16 rs770870073 0.5564 None gnomAD-2.1.1 8.12E-06
7619 12 V/L 16 rs770870073 0.5564 None gnomAD-3.1.2 6.57E-06
7619 12 V/L 16 rs770870073 0.5564 None gnomAD-4.0.0 1.49484E-05
7620 13 A/S 17 rs749462228 0.1701 None gnomAD-4.0.0 6.86986E-07
7620 13 A/V 17 rs2078299503 0.1701 None gnomAD-3.1.2 6.57E-06
7620 13 A/V 17 rs2078299503 0.1701 None gnomAD-4.0.0 2.02998E-06
7622 15 Q/R 23 rs1234634855 0.6337 None gnomAD-3.1.2 6.57E-06
7622 15 Q/R 23 rs1234634855 0.6337 None gnomAD-4.0.0 2.57847E-06
7623 16 G/E 24 rs752804619 0.3604 None gnomAD-3.1.2 1.31E-05
7623 16 G/E 24 rs752804619 0.3604 None gnomAD-4.0.0 3.10661E-06
7623 16 G/R 24 rs2078297932 0.3604 None gnomAD-4.0.0 1.60242E-06
7624 17 E/K 25 rs2078297140 0.4586 None gnomAD-3.1.2 6.57E-06
7624 17 E/K 25 rs2078297140 0.4586 None gnomAD-4.0.0 2.57533E-06
7626 19 I/L 28 rs1560677297 0.1626 None gnomAD-2.1.1 3.18E-05
7626 19 I/L 28 rs1560677297 0.1626 None gnomAD-3.1.2 6.57E-06
7626 19 I/L 28 rs1560677297 0.1626 None gnomAD-4.0.0 6.57065E-06
7626 19 I/V 28 None 0.1626 None gnomAD-4.0.0 2.40064E-06
7627 20 Q/K 29 None 0.5754 None gnomAD-4.0.0 1.36986E-06
7630 23 C/R 33 rs1553908536 0.0833 None gnomAD-4.0.0 1.36928E-06
7630 23 C/S 33 rs781175517 0.0833 None gnomAD-2.1.1 4.03E-05
7630 23 C/S 33 rs781175517 0.0833 None gnomAD-4.0.0 6.84518E-06
7630 23 C/Y 33 None 0.0833 None gnomAD-4.0.0 6.84518E-07
7632 25 I/T 35 rs561354716 0.0992 None gnomAD-2.1.1 1.07E-05
7632 25 I/T 35 rs561354716 0.0992 None gnomAD-3.1.2 2.63E-05
7632 25 I/T 35 rs561354716 0.0992 None 1000 genomes 3.99361E-04
7632 25 I/T 35 rs561354716 0.0992 None gnomAD-4.0.0 5.07426E-06
7633 26 S/N 38 rs1247821028 0.3601 None gnomAD-4.0.0 3.60098E-06
7634 27 G/S 40 rs1472650919 0.2895 None gnomAD-2.1.1 6.37E-05
7634 27 G/S 40 rs1472650919 0.2895 None gnomAD-3.1.2 1.31E-05
7634 27 G/S 40 rs1472650919 0.2895 None gnomAD-4.0.0 3.0448E-06
7635 28 S/F 41 rs1268436239 0.2216 None gnomAD-2.1.1 4.03E-06
7635 28 S/F 41 rs1268436239 0.2216 None gnomAD-4.0.0 2.05336E-06
7636 29 P/A 42 rs1220583171 0.7348 None gnomAD-2.1.1 4.03E-06
7636 29 P/A 42 rs1220583171 0.7348 None gnomAD-4.0.0 3.18538E-06
7638 31 I/N 44 rs1266131698 0.1486 None gnomAD-2.1.1 4.02E-06
7638 31 I/N 44 rs1266131698 0.1486 None gnomAD-3.1.2 6.57E-06
7638 31 I/N 44 rs1266131698 0.1486 None gnomAD-4.0.0 2.56364E-06
7638 31 I/V 44 rs1489491529 0.1486 None gnomAD-2.1.1 4.02E-06
7638 31 I/V 44 rs1489491529 0.1486 None gnomAD-4.0.0 1.20032E-06
7639 32 K/I 45 rs1413635050 0.5987 None gnomAD-2.1.1 3.19E-05
7639 32 K/I 45 rs1413635050 0.5987 None gnomAD-3.1.2 6.57E-06
7639 32 K/I 45 rs1413635050 0.5987 None gnomAD-4.0.0 1.05378E-05
7640 33 V/I 46 rs1245374725 0.2631 None gnomAD-4.0.0 3.60097E-06
7640 33 V/L 46 rs1245374725 0.2631 None gnomAD-2.1.1 4.02E-06
7641 34 S/L 47 rs369508943 0.3016 None gnomAD-2.1.1 5.36E-05
7641 34 S/L 47 rs369508943 0.3016 None gnomAD-3.1.2 5.91E-05
7641 34 S/L 47 rs369508943 0.3016 None gnomAD-4.0.0 7.12877E-05
7643 36 F/C 49 rs1236884479 0.1910 None gnomAD-3.1.2 6.57E-06
7643 36 F/C 49 rs1236884479 0.1910 None gnomAD-4.0.0 6.5716E-06
7643 36 F/L 49 rs1220233806 0.1910 None gnomAD-2.1.1 4.03E-06
7643 36 F/L 49 rs1220233806 0.1910 None gnomAD-4.0.0 1.59267E-06
7644 37 R/Q 50 rs766675017 0.3025 None gnomAD-2.1.1 7.86E-05
7644 37 R/Q 50 rs766675017 0.3025 None gnomAD-3.1.2 1.97E-05
7644 37 R/Q 50 rs766675017 0.3025 None gnomAD-4.0.0 2.23175E-05
7647 40 S/I 55 None 0.4332 None gnomAD-4.0.0 1.20032E-06
7647 40 S/R 55 rs544355195 0.4332 None gnomAD-2.1.1 4.03E-06
7647 40 S/R 55 rs544355195 0.4332 None gnomAD-3.1.2 1.97E-05
7647 40 S/R 55 rs544355195 0.4332 None 1000 genomes 1.99681E-04
7647 40 S/R 55 rs544355195 0.4332 None gnomAD-4.0.0 3.09964E-06
7648 41 E/K 56 rs397517502 0.3523 None gnomAD-2.1.1 2.86E-05
7648 41 E/K 56 rs397517502 0.3523 None gnomAD-3.1.2 3.29E-05
7648 41 E/K 56 rs397517502 0.3523 None 1000 genomes 1.99681E-04
7648 41 E/K 56 rs397517502 0.3523 None gnomAD-4.0.0 1.48778E-05
7650 43 H/L 59 rs144326093 0.7046 None gnomAD-3.1.2 6.57E-06
7650 43 H/L 59 rs144326093 0.7046 None 1000 genomes 1.99681E-04
7650 43 H/L 59 rs144326093 0.7046 None gnomAD-4.0.0 6.56607E-06
7650 43 H/N 59 rs868182073 0.7046 None gnomAD-3.1.2 6.57E-06
7650 43 H/N 59 rs868182073 0.7046 None gnomAD-4.0.0 2.02992E-06
7650 43 H/Q 59 None 0.7046 None gnomAD-4.0.0 6.84466E-07
7650 43 H/R 59 rs144326093 0.7046 None gnomAD-2.1.1 8.05E-06
7650 43 H/R 59 rs144326093 0.7046 None gnomAD-4.0.0 3.18526E-06
7651 44 E/G 70 rs1461872954 0.7196 None gnomAD-2.1.1 4.03E-06
7651 44 E/G 70 rs1461872954 0.7196 None gnomAD-3.1.2 2.63E-05
7651 44 E/G 70 rs1461872954 0.7196 None gnomAD-4.0.0 5.57904E-06
7653 46 W/C 111 None 0.7378 None gnomAD-4.0.0 6.84489E-07
7655 48 Y/F 121 rs775036090 0.1983 None gnomAD-2.1.1 4.03E-06
7655 48 Y/F 121 rs775036090 0.1983 None gnomAD-4.0.0 1.59245E-06
7655 48 Y/N 121 None 0.1983 None gnomAD-4.0.0 2.40064E-06
7656 49 N/D 122 rs184123332 0.6220 None gnomAD-2.1.1 2.01E-05
7656 49 N/D 122 rs184123332 0.6220 None gnomAD-3.1.2 2.63E-05
7656 49 N/D 122 rs184123332 0.6220 None 1000 genomes 1.99681E-04
7656 49 N/D 122 rs184123332 0.6220 None gnomAD-4.0.0 8.73922E-05
7656 49 N/K 122 None 0.6220 None gnomAD-4.0.0 6.84423E-07
7656 49 N/S 122 rs1197475799 0.6220 None gnomAD-2.1.1 4.03E-06
7656 49 N/S 122 rs1197475799 0.6220 None gnomAD-4.0.0 1.59231E-06
7657 50 M/I 123 rs749090360 0.2331 None gnomAD-2.1.1 8.05E-06
7657 50 M/I 123 rs749090360 0.2331 None gnomAD-3.1.2 6.57E-06
7657 50 M/I 123 rs749090360 0.2331 None gnomAD-4.0.0 4.95896E-06
7657 50 M/T 123 rs770782245 0.2331 None gnomAD-2.1.1 8.05E-06
7657 50 M/T 123 rs770782245 0.2331 None gnomAD-4.0.0 2.73763E-06
7658 51 S/L 125 None 0.4164 None gnomAD-4.0.0 1.36886E-06
7659 52 F/L 127 None 0.3024 None gnomAD-4.0.0 1.20032E-06
7662 55 S/A 134 None 0.3266 None gnomAD-4.0.0 1.59238E-06
7664 57 A/S 136 rs886042147 0.0861 None gnomAD-4.0.0 6.84437E-07
7664 57 A/T 136 None 0.0861 None gnomAD-4.0.0 6.84437E-07
7664 57 A/V 136 rs887438313 0.0861 None gnomAD-4.0.0 2.73776E-06
7665 58 L/F 137 None 0.3009 None gnomAD-4.0.0 1.59249E-06
7666 59 L/F 138 None 0.0699 None gnomAD-4.0.0 1.36886E-06
7666 59 L/V 138 rs2078276460 0.0699 None gnomAD-4.0.0 6.84431E-07
7667 60 T/M 139 rs374430623 0.2187 None gnomAD-2.1.1 8.05E-06
7667 60 T/M 139 rs374430623 0.2187 None gnomAD-3.1.2 6.57E-06
7667 60 T/M 139 rs374430623 0.2187 None gnomAD-4.0.0 2.23174E-05
7667 60 T/R 139 rs374430623 0.2187 None gnomAD-2.1.1 2.01E-05
7667 60 T/R 139 rs374430623 0.2187 None gnomAD-3.1.2 6.57E-06
7667 60 T/R 139 rs374430623 0.2187 None gnomAD-4.0.0 4.3395E-06
7669 62 N/D 141 rs1060500486 0.3799 None gnomAD-2.1.1 1.21E-05
7669 62 N/D 141 rs1060500486 0.3799 None gnomAD-4.0.0 4.10675E-06
7669 62 N/S 141 rs781289417 0.3799 None gnomAD-2.1.1 8.05E-06
7669 62 N/S 141 rs781289417 0.3799 None gnomAD-4.0.0 3.42223E-06
7670 63 E/K 143 None 0.7709 None gnomAD-4.0.0 6.84451E-07
7671 64 A/G 144 rs1230535310 0.1041 None gnomAD-2.1.1 4.03E-06
7671 64 A/G 144 rs1230535310 0.1041 None gnomAD-4.0.0 9.55578E-06
7671 64 A/T 144 rs1560675339 0.1041 None gnomAD-3.1.2 6.57E-06
7671 64 A/T 144 rs1560675339 0.1041 None gnomAD-4.0.0 6.57151E-06
7672 65 S/C 145 rs1470201253 0.1974 None gnomAD-3.1.2 2.63E-05
7672 65 S/C 145 rs1470201253 0.1974 None gnomAD-4.0.0 2.62829E-05
7672 65 S/N 145 None 0.1974 None gnomAD-4.0.0 1.20032E-06
7674 67 E/A 148 None 0.7822 None gnomAD-4.0.0 1.59359E-06
7674 67 E/D 148 rs865791908 0.7822 None gnomAD-4.0.0 1.59352E-05
7675 68 D/A 149 None 0.1806 None gnomAD-4.0.0 3.18931E-06
7675 68 D/N 149 rs552951988 0.1806 None gnomAD-2.1.1 1.21E-05
7675 68 D/N 149 rs552951988 0.1806 None gnomAD-4.0.0 5.47706E-06
7675 68 D/Y 149 rs552951988 0.1806 None gnomAD-2.1.1 1.23319E-03
7675 68 D/Y 149 rs552951988 0.1806 None gnomAD-3.1.2 3.61476E-04
7675 68 D/Y 149 rs552951988 0.1806 None 1000 genomes 2.19649E-03
7675 68 D/Y 149 rs552951988 0.1806 None gnomAD-4.0.0 7.17337E-04
7676 69 S/R 151 rs199907920 0.2359 None gnomAD-2.1.1 1.61E-05
7676 69 S/R 151 rs199907920 0.2359 None gnomAD-4.0.0 4.79697E-06
7677 70 G/R 152 rs367826445 0.1942 None gnomAD-2.1.1 2.32392E-04
7677 70 G/R 152 rs367826445 0.1942 None gnomAD-3.1.2 1.84039E-04
7677 70 G/R 152 rs367826445 0.1942 None 1000 genomes 3.99361E-04
7677 70 G/R 152 rs367826445 0.1942 None gnomAD-4.0.0 9.92616E-05
7677 70 G/W 152 rs367826445 0.1942 None gnomAD-2.1.1 4.03E-06
7677 70 G/W 152 rs367826445 0.1942 None gnomAD-4.0.0 6.85099E-07
7679 72 Y/S 154 rs1052929607 0.1173 None gnomAD-4.0.0 6.00162E-06
7680 73 I/L 155 None 0.2870 None gnomAD-4.0.0 3.60097E-06
7680 73 I/V 155 None 0.2870 None gnomAD-4.0.0 2.40064E-06
7681 74 C/Y 156 rs573529663 0.0638 None gnomAD-2.1.1 4.03E-06
7681 74 C/Y 156 rs573529663 0.0638 None gnomAD-3.1.2 6.57E-06
7681 74 C/Y 156 rs573529663 0.0638 None 1000 genomes 1.99681E-04
7681 74 C/Y 156 rs573529663 0.0638 None gnomAD-4.0.0 2.57784E-06
7682 75 E/K 157 rs761584703 0.3745 None gnomAD-2.1.1 2.02E-05
7682 75 E/K 157 rs761584703 0.3745 None gnomAD-3.1.2 1.31E-05
7682 75 E/K 157 rs761584703 0.3745 None gnomAD-4.0.0 3.1094E-05
7683 76 A/P 158 rs2078270258 0.0899 None gnomAD-3.1.2 6.57E-06
7683 76 A/P 158 rs2078270258 0.0899 None gnomAD-4.0.0 6.57142E-06
7683 76 A/S 158 None 0.0899 None gnomAD-4.0.0 1.60929E-06
7684 77 H/Y 159 rs759120198 0.3666 None gnomAD-2.1.1 4.03E-06
7684 77 H/Y 159 rs759120198 0.3666 None gnomAD-4.0.0 2.06281E-06
7685 78 N/D 161 None 0.1124 None gnomAD-4.0.0 1.37507E-06
7685 78 N/S 161 None 0.1124 None gnomAD-4.0.0 1.60947E-06
7687 80 V/I 163 None 0.2907 None gnomAD-4.0.0 1.62139E-06
7688 81 G/D 164 None 0.2067 None gnomAD-4.0.0 1.62351E-06
7689 82 D/N 165 rs727505052 0.6740 None gnomAD-2.1.1 1.43E-05
7689 82 D/N 165 rs727505052 0.6740 None gnomAD-3.1.2 3.94E-05
7689 82 D/N 165 rs727505052 0.6740 None gnomAD-4.0.0 1.93654E-05
7690 83 A/S 166 rs763029699 0.1813 None gnomAD-2.1.1 4.05E-06
7690 83 A/S 166 rs763029699 0.1813 None gnomAD-3.1.2 6.57E-06
7690 83 A/S 166 rs763029699 0.1813 None gnomAD-4.0.0 5.00611E-06
7690 83 A/T 166 rs763029699 0.1813 None gnomAD-2.1.1 3.23E-05
7690 83 A/T 166 rs763029699 0.1813 None gnomAD-3.1.2 1.31E-05
7690 83 A/T 166 rs763029699 0.1813 None gnomAD-4.0.0 1.93972E-05
7690 83 A/V 166 rs773024652 0.1813 None gnomAD-2.1.1 4.05E-06
7691 84 S/N 168 None 0.4255 None gnomAD-4.0.0 3.26339E-06
7693 86 S/G 171 None 0.4244 None gnomAD-4.0.0 7.20196E-06
7695 88 A/E 173 rs201003628 0.2812 None gnomAD-3.1.2 6.57E-06
7695 88 A/E 173 rs201003628 0.2812 None gnomAD-4.0.0 6.57376E-06
7695 88 A/S 173 rs748347572 0.2812 None gnomAD-2.1.1 8.13E-06
7695 88 A/S 173 rs748347572 0.2812 None gnomAD-4.0.0 3.46658E-06
7695 88 A/V 173 rs201003628 0.2812 None gnomAD-3.1.2 6.57E-06
7695 88 A/V 173 rs201003628 0.2812 None gnomAD-4.0.0 2.51075E-06
7698 91 V/G 177 rs1346948752 0.1448 None gnomAD-2.1.1 4.13E-06
7698 91 V/G 177 rs1346948752 0.1448 None gnomAD-4.0.0 1.00154E-05