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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
33596 1 P/L 1 None 0.3290 None gnomAD-4.0.0 6.95303E-07
33598 3 T/I 3 rs1272515576 0.7282 None gnomAD-2.1.1 4.27E-06
33598 3 T/I 3 rs1272515576 0.7282 None gnomAD-4.0.0 6.96121E-07
33599 4 L/F 4 None 0.2629 None gnomAD-4.0.0 1.6474E-06
33599 4 L/I 4 None 0.2629 None gnomAD-4.0.0 1.64738E-06
33599 4 L/P 4 rs775361062 0.2629 None gnomAD-2.1.1 4.16E-06
33600 5 E/K 5 None 0.4936 None gnomAD-4.0.0 6.92294E-07
33601 6 G/C 7 rs771888313 0.6584 None gnomAD-2.1.1 2.07E-05
33601 6 G/C 7 rs771888313 0.6584 None gnomAD-3.1.2 6.61E-06
33601 6 G/C 7 rs771888313 0.6584 None gnomAD-4.0.0 2.62129E-05
33602 7 M/L 8 rs759368043 1.0729 None gnomAD-2.1.1 4.09E-06
33602 7 M/L 8 rs759368043 1.0729 None gnomAD-3.1.2 6.6E-06
33602 7 M/L 8 rs759368043 1.0729 None gnomAD-4.0.0 6.6031E-06
33602 7 M/T 8 rs576732964 1.0729 None gnomAD-3.1.2 6.59E-06
33602 7 M/T 8 rs576732964 1.0729 None gnomAD-4.0.0 6.84198E-06
33602 7 M/V 8 rs759368043 1.0729 None gnomAD-3.1.2 1.32E-05
33602 7 M/V 8 rs759368043 1.0729 None gnomAD-4.0.0 2.48992E-06
33603 8 G/E 9 None 0.4382 None gnomAD-4.0.0 2.74696E-06
33604 9 A/T 11 None 0.2438 None gnomAD-4.0.0 1.37344E-06
33604 9 A/V 11 rs1691172442 0.2438 None gnomAD-3.1.2 6.62E-06
33604 9 A/V 11 rs1691172442 0.2438 None gnomAD-4.0.0 2.48809E-06
33607 12 A/V 16 None 0.1663 None gnomAD-4.0.0 1.59605E-06
33609 14 R/P 23 rs771243505 0.7025 None gnomAD-2.1.1 4.04E-06
33609 14 R/P 23 rs771243505 0.7025 None gnomAD-4.0.0 6.8475E-07
33609 14 R/Q 23 rs771243505 0.7025 None gnomAD-2.1.1 1.21E-05
33609 14 R/Q 23 rs771243505 0.7025 None gnomAD-3.1.2 4.62E-05
33609 14 R/Q 23 rs771243505 0.7025 None gnomAD-4.0.0 1.30282E-05
33610 15 G/D 24 rs373754986 0.3386 None gnomAD-2.1.1 6.81E-05
33610 15 G/D 24 rs373754986 0.3386 None gnomAD-3.1.2 2.04063E-04
33610 15 G/D 24 rs373754986 0.3386 None gnomAD-4.0.0 4.03101E-05
33610 15 G/V 24 rs373754986 0.3386 None gnomAD-2.1.1 1.21E-05
33610 15 G/V 24 rs373754986 0.3386 None gnomAD-3.1.2 6.58E-06
33610 15 G/V 24 rs373754986 0.3386 None gnomAD-4.0.0 2.48062E-06
33611 16 E/Q 25 rs769704328 0.3816 None gnomAD-2.1.1 4.04E-06
33611 16 E/V 25 rs2154136906 0.3816 None gnomAD-4.0.0 1.59318E-06
33612 17 V/G 26 None 0.4357 None gnomAD-4.0.0 2.40064E-06
33613 18 V/G 28 None 0.1681 None gnomAD-4.0.0 1.20032E-06
33613 18 V/I 28 rs1691163067 0.1681 None gnomAD-3.1.2 6.58E-06
33613 18 V/I 28 rs1691163067 0.1681 None gnomAD-4.0.0 2.56487E-06
33614 19 S/N 29 rs879230745 0.4024 None gnomAD-3.1.2 1.32E-05
33614 19 S/N 29 rs879230745 0.4024 None gnomAD-4.0.0 5.12999E-06
33615 20 I/V 30 None 0.1499 None gnomAD-4.0.0 1.5923E-06
33616 21 K/T 31 None 0.3437 None gnomAD-4.0.0 1.20032E-06
33617 22 I/T 33 rs1395817779 0.1128 None gnomAD-2.1.1 8.05E-06
33617 22 I/T 33 rs1395817779 0.1128 None gnomAD-4.0.0 5.47448E-06
33618 23 P/L 34 rs748684753 0.2967 None gnomAD-2.1.1 4.02E-06
33618 23 P/L 34 rs748684753 0.2967 None gnomAD-4.0.0 1.59187E-06
33618 23 P/S 34 None 0.2967 None gnomAD-4.0.0 1.59197E-06
33618 23 P/T 34 None 0.2967 None gnomAD-4.0.0 1.59197E-06
33620 25 S/T 38 rs369261182 0.3496 None gnomAD-2.1.1 2.14E-05
33620 25 S/T 38 rs369261182 0.3496 None gnomAD-3.1.2 1.98E-05
33620 25 S/T 38 rs369261182 0.3496 None gnomAD-4.0.0 6.26131E-05
33621 26 G/D 40 None 0.1258 None gnomAD-4.0.0 1.59181E-06
33623 28 P/L 42 rs1199682198 0.3489 None gnomAD-2.1.1 4.02E-06
33623 28 P/L 42 rs1199682198 0.3489 None gnomAD-4.0.0 1.59158E-06
33626 31 V/M 45 rs1222398324 0.6052 None gnomAD-3.1.2 1.97E-05
33626 31 V/M 45 rs1222398324 0.6052 None gnomAD-4.0.0 1.48744E-05
33627 32 I/M 46 rs756942845 0.1510 None gnomAD-2.1.1 7.14E-05
33627 32 I/M 46 rs756942845 0.1510 None gnomAD-3.1.2 9.21E-05
33627 32 I/M 46 rs756942845 0.1510 None gnomAD-4.0.0 1.05359E-05
33628 33 T/I 47 rs200085900 0.4201 None gnomAD-4.0.0 3.18286E-06
33630 35 Q/L 49 None 0.3483 None gnomAD-4.0.0 1.59138E-06
33631 36 K/N 50 None 0.1884 None gnomAD-4.0.0 1.59135E-06
33634 39 D/V 55 rs763684680 0.7541 None gnomAD-2.1.1 4.02E-06
33634 39 D/V 55 rs763684680 0.7541 None gnomAD-4.0.0 1.59133E-06
33635 40 L/F 56 rs879048474 0.7542 None gnomAD-2.1.1 1.07E-05
33635 40 L/F 56 rs879048474 0.7542 None gnomAD-3.1.2 1.31E-05
33635 40 L/F 56 rs879048474 0.7542 None gnomAD-4.0.0 4.33796E-06
33636 41 I/L 58 None 0.1222 None gnomAD-4.0.0 3.42269E-06
33636 41 I/T 58 rs1691134581 0.1222 None gnomAD-4.0.0 2.73686E-06
33636 41 I/V 58 None 0.1222 None gnomAD-4.0.0 1.36894E-06
33637 42 D/E 59 None 0.8103 None gnomAD-4.0.0 2.40065E-06
33637 42 D/N 59 None 0.8103 None gnomAD-4.0.0 2.05269E-06
33638 43 N/S 70 rs760140582 0.5435 None gnomAD-2.1.1 1.21E-05
33638 43 N/S 70 rs760140582 0.5435 None gnomAD-4.0.0 9.548E-06
33639 44 N/Y 73 rs752173646 0.4074 None gnomAD-2.1.1 1.79E-05
33639 44 N/Y 73 rs752173646 0.4074 None gnomAD-3.1.2 3.94E-05
33639 44 N/Y 73 rs752173646 0.4074 None gnomAD-4.0.0 1.2811E-05
33640 45 G/S 111 None 0.5916 None gnomAD-4.0.0 1.20032E-06
33640 45 G/V 111 rs767492660 0.5916 None gnomAD-2.1.1 8.04E-06
33640 45 G/V 111 rs767492660 0.5916 None gnomAD-4.0.0 3.18266E-06
33641 46 H/Q 115 rs1691127745 0.2776 None gnomAD-4.0.0 1.20032E-06
33641 46 H/R 115 rs759457802 0.2776 None gnomAD-2.1.1 1.21E-05
33641 46 H/R 115 rs759457802 0.2776 None gnomAD-4.0.0 3.18251E-06
33641 46 H/Y 115 rs1357251504 0.2776 None gnomAD-2.1.1 4.02E-06
33641 46 H/Y 115 rs1357251504 0.2776 None gnomAD-4.0.0 1.59131E-06
33642 47 Y/D 121 rs774270109 0.1943 None gnomAD-2.1.1 8.04E-06
33642 47 Y/D 121 rs774270109 0.1943 None gnomAD-3.1.2 1.97E-05
33642 47 Y/D 121 rs774270109 0.1943 None gnomAD-4.0.0 3.09845E-06
33643 48 Q/K 122 None 0.4244 None gnomAD-4.0.0 1.5913E-06
33645 50 I/F 125 rs770564631 0.3418 None gnomAD-2.1.1 4.02E-06
33645 50 I/F 125 rs770564631 0.3418 None gnomAD-3.1.2 1.31E-05
33645 50 I/F 125 rs770564631 0.3418 None gnomAD-4.0.0 3.84328E-06
33645 50 I/M 125 None 0.3418 None gnomAD-4.0.0 6.1578E-06
33645 50 I/T 125 rs1691122831 0.3418 None gnomAD-3.1.2 6.57E-06
33645 50 I/T 125 rs1691122831 0.3418 None gnomAD-4.0.0 2.4788E-06
33646 51 V/I 127 rs773257113 0.3238 None gnomAD-2.1.1 2.01E-05
33646 51 V/I 127 rs773257113 0.3238 None gnomAD-3.1.2 1.97E-05
33646 51 V/I 127 rs773257113 0.3238 None gnomAD-4.0.0 1.42529E-05
33648 53 R/S 131 None 0.8414 None gnomAD-4.0.0 1.59125E-06
33648 53 R/T 131 None 0.8414 None gnomAD-4.0.0 3.18251E-06
33650 55 F/C 135 None 0.2018 None gnomAD-4.0.0 4.78946E-06
33651 56 T/I 136 rs1559050637 0.0769 None gnomAD-2.1.1 4.02E-06
33651 56 T/I 136 rs1559050637 0.0769 None gnomAD-4.0.0 2.73685E-06
33653 58 L/F 138 rs1178063403 0.0649 None gnomAD-2.1.1 4.02E-06
33653 58 L/F 138 rs1178063403 0.0649 None gnomAD-4.0.0 1.59127E-06
33654 59 V/A 139 None 0.1361 None gnomAD-4.0.0 1.20032E-06
33655 60 F/L 140 rs984242810 0.0921 None gnomAD-3.1.2 6.57E-06
33655 60 F/L 140 rs984242810 0.0921 None gnomAD-4.0.0 3.71809E-06
33655 60 F/Y 140 rs1032594285 0.0921 None gnomAD-2.1.1 4.02E-06
33655 60 F/Y 140 rs1032594285 0.0921 None gnomAD-4.0.0 1.59131E-06
33656 61 P/A 141 rs559295181 0.3353 None gnomAD-2.1.1 4.02E-06
33656 61 P/A 141 rs559295181 0.3353 None gnomAD-4.0.0 6.84223E-07
33656 61 P/S 141 rs559295181 0.3353 None gnomAD-2.1.1 2.41E-05
33656 61 P/S 141 rs559295181 0.3353 None gnomAD-3.1.2 6.57E-06
33656 61 P/S 141 rs559295181 0.3353 None 1000 genomes 1.99681E-04
33656 61 P/S 141 rs559295181 0.3353 None gnomAD-4.0.0 8.05591E-06
33657 62 N/I 142 rs769340667 0.8220 None gnomAD-2.1.1 4.02E-06
33657 62 N/K 142 rs747456613 0.8220 None gnomAD-2.1.1 4.02E-06
33657 62 N/K 142 rs747456613 0.8220 None gnomAD-4.0.0 6.84218E-07
33657 62 N/S 142 rs769340667 0.8220 None gnomAD-2.1.1 1.21E-05
33657 62 N/S 142 rs769340667 0.8220 None gnomAD-4.0.0 6.15797E-06
33658 63 G/R 143 rs780484535 0.1589 None gnomAD-2.1.1 1.61E-05
33658 63 G/R 143 rs780484535 0.1589 None gnomAD-4.0.0 9.57908E-06
33660 65 E/D 145 rs727503536 0.3364 None gnomAD-4.0.0 2.05268E-06
33660 65 E/G 145 rs1309484886 0.3364 None gnomAD-2.1.1 4.02E-06
33660 65 E/G 145 rs1309484886 0.3364 None gnomAD-4.0.0 6.84207E-07
33660 65 E/K 145 rs1355308623 0.3364 None gnomAD-2.1.1 4.02E-06
33660 65 E/K 145 rs1355308623 0.3364 None gnomAD-4.0.0 1.59129E-06
33660 65 E/Q 145 None 0.3364 None gnomAD-4.0.0 1.59129E-06
33660 65 E/V 145 rs1309484886 0.3364 None gnomAD-2.1.1 4.02E-06
33660 65 E/V 145 rs1309484886 0.3364 None gnomAD-4.0.0 4.78945E-06
33661 66 R/G 146 rs998389353 0.7398 None gnomAD-2.1.1 4.02E-06
33661 66 R/G 146 rs998389353 0.7398 None gnomAD-4.0.0 2.05263E-06
33661 66 R/K 146 rs201857158 0.7398 None gnomAD-2.1.1 3.60869E-04
33661 66 R/K 146 rs201857158 0.7398 None gnomAD-3.1.2 1.3143E-04
33661 66 R/K 146 rs201857158 0.7398 None 1000 genomes 7.98722E-04
33661 66 R/K 146 rs201857158 0.7398 None gnomAD-4.0.0 2.05723E-04
33664 69 A/D 151 None 0.2295 None gnomAD-4.0.0 1.20032E-06
33666 71 F/L 153 rs752263533 0.5663 None gnomAD-2.1.1 2.82E-05
33666 71 F/L 153 rs752263533 0.5663 None gnomAD-3.1.2 1.31E-05
33666 71 F/L 153 rs752263533 0.5663 None gnomAD-4.0.0 3.90422E-05
33667 72 Y/C 154 rs1296330425 0.1052 None gnomAD-2.1.1 4.02E-06
33667 72 Y/C 154 rs1296330425 0.1052 None gnomAD-4.0.0 1.59129E-06
33668 73 V/A 155 rs372534712 0.2208 None gnomAD-4.0.0 4.78951E-06
33668 73 V/E 155 None 0.2208 None gnomAD-4.0.0 6.84215E-07
33668 73 V/M 155 rs1417934977 0.2208 None gnomAD-2.1.1 4.02E-06
33668 73 V/M 155 rs1417934977 0.2208 None gnomAD-4.0.0 1.59129E-06
33669 74 V/I 156 rs1331642312 0.0947 None gnomAD-4.0.0 3.42106E-06
33670 75 C/Y 157 rs749219080 0.1544 None gnomAD-2.1.1 4.02E-06
33670 75 C/Y 157 rs749219080 0.1544 None gnomAD-4.0.0 2.73678E-06
33671 76 A/D 158 rs1575296563 0.0878 None gnomAD-3.1.2 6.57E-06
33671 76 A/D 158 rs1575296563 0.0878 None gnomAD-4.0.0 6.57263E-06
33674 79 R/K 162 rs766217871 0.4281 None gnomAD-2.1.1 4.02E-06
33674 79 R/K 162 rs766217871 0.4281 None gnomAD-4.0.0 1.59123E-06
33674 79 R/T 162 rs766217871 0.4281 None gnomAD-2.1.1 4.02E-06
33674 79 R/T 162 rs766217871 0.4281 None gnomAD-4.0.0 1.59123E-06
33675 80 F/S 163 None 0.2651 None gnomAD-4.0.0 1.20032E-06
33676 81 G/E 164 rs368894429 0.1883 None gnomAD-2.1.1 8.04E-06
33676 81 G/E 164 rs368894429 0.1883 None gnomAD-3.1.2 1.97E-05
33676 81 G/E 164 rs368894429 0.1883 None gnomAD-4.0.0 1.97138E-05
33676 81 G/R 164 rs762614257 0.1883 None gnomAD-2.1.1 4.02E-06
33677 82 I/T 165 rs1475771537 0.5161 None gnomAD-2.1.1 4.02E-06
33677 82 I/T 165 rs1475771537 0.5161 None gnomAD-4.0.0 3.18237E-06
33678 83 D/H 166 rs1268811847 0.2102 None gnomAD-3.1.2 6.57E-06
33678 83 D/H 166 rs1268811847 0.2102 None gnomAD-4.0.0 6.57065E-06
33679 84 Q/E 168 rs561471402 0.5456 None gnomAD-2.1.1 4.02E-06
33679 84 Q/E 168 rs561471402 0.5456 None gnomAD-3.1.2 6.57E-06
33679 84 Q/E 168 rs561471402 0.5456 None 1000 genomes 1.99681E-04
33679 84 Q/E 168 rs561471402 0.5456 None gnomAD-4.0.0 6.56685E-06
33680 85 K/N 169 rs776913696 0.3050 None gnomAD-2.1.1 1.43E-05
33680 85 K/N 169 rs776913696 0.3050 None gnomAD-3.1.2 2.63E-05
33680 85 K/N 169 rs776913696 0.3050 None gnomAD-4.0.0 5.51508E-05
33680 85 K/R 169 None 0.3050 None gnomAD-4.0.0 1.59116E-06
33681 86 T/I 171 None 0.4302 None gnomAD-4.0.0 4.80129E-06
33682 87 V/A 172 rs768803095 0.1944 None gnomAD-2.1.1 4.02E-06
33682 87 V/A 172 rs768803095 0.1944 None gnomAD-4.0.0 3.18241E-06
33683 88 E/K 173 rs747577276 0.3154 None gnomAD-2.1.1 1.61E-05
33683 88 E/K 173 rs747577276 0.3154 None gnomAD-4.0.0 4.78944E-06
33684 89 L/M 174 None 0.1032 None gnomAD-2.1.1 8.04E-06
33684 89 L/M 174 None 0.1032 None gnomAD-4.0.0 6.1578E-06
33684 89 L/V 174 rs775824162 0.1032 None gnomAD-4.0.0 2.7368E-06
33686 91 V/M 177 rs1194467385 0.1538 None gnomAD-3.1.2 1.31E-05
33686 91 V/M 177 rs1194467385 0.1538 None gnomAD-4.0.0 1.31385E-05