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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
5543 1 A/T 1 rs1460498518 0.1348 None gnomAD-2.1.1 3.19E-05
5543 1 A/T 1 rs1460498518 0.1348 None gnomAD-3.1.2 6.57E-06
5543 1 A/T 1 rs1460498518 0.1348 None gnomAD-4.0.0 6.57445E-06
5544 2 T/K 2 rs751511581 0.4618 None gnomAD-2.1.1 4.18E-06
5544 2 T/K 2 rs751511581 0.4618 None gnomAD-4.0.0 1.62648E-06
5545 3 F/L 3 rs1372586778 0.1402 None gnomAD-2.1.1 3.19E-05
5545 3 F/L 3 rs1372586778 0.1402 None gnomAD-3.1.2 6.57E-06
5545 3 F/L 3 rs1372586778 0.1402 None gnomAD-4.0.0 3.04478E-06
5545 3 F/S 3 rs999328804 0.1402 None gnomAD-3.1.2 1.31E-05
5545 3 F/S 3 rs999328804 0.1402 None gnomAD-4.0.0 3.04492E-06
5546 4 V/G 4 rs903298127 0.5471 None gnomAD-4.0.0 1.62235E-06
5546 4 V/I 4 rs2154310117 0.5471 None gnomAD-4.0.0 1.20032E-06
5547 5 E/K 5 rs766334270 0.3923 None gnomAD-2.1.1 4.18E-06
5547 5 E/K 5 rs766334270 0.3923 None gnomAD-4.0.0 6.89766E-07
5549 7 L/F 8 None 0.1774 None gnomAD-4.0.0 1.61318E-06
5551 9 P/L 11 rs762729065 0.7253 None gnomAD-2.1.1 4.11E-06
5551 9 P/L 11 rs762729065 0.7253 None gnomAD-4.0.0 1.61106E-06
5551 9 P/T 11 rs1578181149 0.7253 None gnomAD-4.0.0 1.08029E-05
5552 10 S/L 13 None 0.4149 None gnomAD-4.0.0 1.59916E-06
5554 12 L/M 16 rs2080687572 0.6846 None gnomAD-4.0.0 1.59845E-06
5554 12 L/V 16 None 0.6846 None gnomAD-4.0.0 1.59846E-06
5559 17 D/V 25 rs1394384005 0.3373 None gnomAD-4.0.0 6.37093E-06
5560 18 A/D 26 rs1203322735 0.4980 None gnomAD-2.1.1 8.07E-06
5560 18 A/D 26 rs1203322735 0.4980 None gnomAD-4.0.0 1.36889E-05
5561 19 T/I 28 rs1434244184 0.2631 None gnomAD-3.1.2 6.57E-06
5561 19 T/I 28 rs1434244184 0.2631 None gnomAD-4.0.0 6.57324E-06
5561 19 T/N 28 None 0.2631 None gnomAD-4.0.0 1.59223E-06
5564 22 A/G 31 rs1251516038 0.3325 None gnomAD-3.1.2 6.57E-06
5564 22 A/G 31 rs1251516038 0.3325 None gnomAD-4.0.0 6.57428E-06
5565 23 C/S 33 rs1228967454 0.0983 None gnomAD-2.1.1 4.03E-06
5565 23 C/S 33 rs1228967454 0.0983 None gnomAD-4.0.0 1.59171E-06
5565 23 C/Y 33 None 0.0983 None gnomAD-4.0.0 1.20032E-06
5566 24 K/T 34 None 0.3236 None gnomAD-4.0.0 1.20032E-06
5567 25 V/L 35 None 0.1225 None gnomAD-4.0.0 1.59152E-06
5569 27 G/D 40 rs761085549 0.3832 None gnomAD-2.1.1 7.15E-06
5569 27 G/D 40 rs761085549 0.3832 None gnomAD-3.1.2 6.57E-06
5569 27 G/D 40 rs761085549 0.3832 None gnomAD-4.0.0 2.56247E-06
5569 27 G/S 40 rs1311137790 0.3832 None gnomAD-3.1.2 1.31E-05
5569 27 G/S 40 rs1311137790 0.3832 None gnomAD-4.0.0 6.40605E-06
5570 28 T/I 41 rs535319438 0.7209 None gnomAD-2.1.1 1.04682E-04
5570 28 T/I 41 rs535319438 0.7209 None gnomAD-3.1.2 1.97E-05
5570 28 T/I 41 rs535319438 0.7209 None 1000 genomes 3.99361E-04
5570 28 T/I 41 rs535319438 0.7209 None gnomAD-4.0.0 3.47017E-05
5570 28 T/N 41 rs535319438 0.7209 None gnomAD-2.1.1 4.03E-06
5570 28 T/N 41 rs535319438 0.7209 None gnomAD-4.0.0 2.05268E-06
5571 29 P/S 42 rs566415754 0.6379 None gnomAD-2.1.1 4.03E-06
5571 29 P/S 42 rs566415754 0.6379 None gnomAD-3.1.2 6.57E-06
5571 29 P/S 42 rs566415754 0.6379 None 1000 genomes 1.99681E-04
5571 29 P/S 42 rs566415754 0.6379 None gnomAD-4.0.0 6.56918E-06
5573 31 I/S 44 None 0.1639 None gnomAD-4.0.0 1.20032E-06
5575 33 I/L 46 rs1253223397 0.1939 None gnomAD-2.1.1 3.19E-05
5575 33 I/L 46 rs1253223397 0.1939 None gnomAD-3.1.2 6.57E-06
5575 33 I/L 46 rs1253223397 0.1939 None gnomAD-4.0.0 1.36841E-06
5576 34 T/A 47 rs769401892 0.1708 None gnomAD-2.1.1 4.02E-06
5576 34 T/R 47 None 0.1708 None gnomAD-4.0.0 1.59124E-06
5577 35 W/R 48 rs1194619992 0.1316 None gnomAD-2.1.1 3.19E-05
5577 35 W/R 48 rs1194619992 0.1316 None gnomAD-3.1.2 6.57E-06
5577 35 W/R 48 rs1194619992 0.1316 None gnomAD-4.0.0 1.8591E-06
5579 37 A/S 50 rs747856086 0.1670 None gnomAD-2.1.1 4.02E-06
5579 37 A/T 50 None 0.1670 None gnomAD-4.0.0 1.59122E-06
5579 37 A/V 50 rs2080673398 0.1670 None gnomAD-3.1.2 6.57E-06
5579 37 A/V 50 rs2080673398 0.1670 None gnomAD-4.0.0 6.57341E-06
5580 38 N/D 51 rs376598696 0.5181 None gnomAD-2.1.1 2.14E-05
5580 38 N/D 51 rs376598696 0.5181 None gnomAD-3.1.2 1.97E-05
5580 38 N/D 51 rs376598696 0.5181 None gnomAD-4.0.0 8.96753E-06
5581 39 D/N 52 rs868601649 0.9896 None gnomAD-4.0.0 3.1824E-06
5581 39 D/V 52 rs1051626873 0.9896 None gnomAD-2.1.1 3.19E-05
5581 39 D/V 52 rs1051626873 0.9896 None gnomAD-3.1.2 6.57E-06
5581 39 D/V 52 rs1051626873 0.9896 None gnomAD-4.0.0 6.08957E-06
5581 39 D/Y 52 None 0.9896 None gnomAD-4.0.0 1.5912E-06
5582 40 R/G 55 None 0.7431 None gnomAD-4.0.0 1.59119E-06
5582 40 R/I 55 rs1232658661 0.7431 None gnomAD-3.1.2 6.57E-06
5582 40 R/I 55 rs1232658661 0.7431 None gnomAD-4.0.0 6.57125E-06
5583 41 E/K 56 None 0.5406 None gnomAD-4.0.0 1.59117E-06
5584 42 I/N 58 rs779652311 0.1481 None gnomAD-2.1.1 1.20671E-04
5584 42 I/N 58 rs779652311 0.1481 None gnomAD-3.1.2 6.57E-06
5584 42 I/N 58 rs779652311 0.1481 None gnomAD-4.0.0 5.14352E-05
5584 42 I/V 58 rs368116422 0.1481 None gnomAD-2.1.1 4.02E-06
5584 42 I/V 58 rs368116422 0.1481 None gnomAD-3.1.2 6.57E-06
5584 42 I/V 58 rs368116422 0.1481 None gnomAD-4.0.0 1.54916E-05
5585 43 K/T 59 rs1180216660 0.7880 None gnomAD-2.1.1 1.21E-05
5585 43 K/T 59 rs1180216660 0.7880 None gnomAD-3.1.2 6.57E-06
5585 43 K/T 59 rs1180216660 0.7880 None gnomAD-4.0.0 5.12397E-06
5586 44 E/D 70 None 0.4209 None gnomAD-4.0.0 3.60097E-06
5586 44 E/K 70 rs2080668204 0.4209 None gnomAD-4.0.0 2.40064E-06
5586 44 E/Q 70 rs2080668204 0.4209 None gnomAD-3.1.2 6.57E-06
5586 44 E/Q 70 rs2080668204 0.4209 None gnomAD-4.0.0 6.57272E-06
5587 45 S/G 73 rs2080667352 0.2471 None gnomAD-4.0.0 2.40064E-06
5588 46 S/G 111 None 0.7639 None gnomAD-4.0.0 6.84195E-07
5588 46 S/N 111 None 0.7639 None gnomAD-4.0.0 1.5912E-06
5588 46 S/R 111 rs1203421858 0.7639 None gnomAD-3.1.2 6.57E-06
5588 46 S/R 111 rs1203421858 0.7639 None gnomAD-4.0.0 1.17736E-05
5591 49 R/I 122 rs750316973 0.6136 None gnomAD-2.1.1 1.61E-05
5591 49 R/I 122 rs750316973 0.6136 None gnomAD-4.0.0 1.0263E-05
5592 50 M/I 123 rs879188937 0.2578 None gnomAD-2.1.1 4.02E-06
5592 50 M/I 123 rs879188937 0.2578 None gnomAD-4.0.0 8.89456E-06
5592 50 M/V 123 None 0.2578 None gnomAD-4.0.0 1.20032E-06
5593 51 S/A 125 None 0.3914 None gnomAD-4.0.0 1.36839E-06
5594 52 F/S 127 rs1210237703 0.3577 None gnomAD-2.1.1 4.02E-06
5594 52 F/S 127 rs1210237703 0.3577 None gnomAD-4.0.0 1.59123E-06
5595 53 V/M 130 None 0.6352 None gnomAD-4.0.0 1.59122E-06
5596 54 E/A 131 None 0.8867 None gnomAD-4.0.0 4.78939E-06
5597 55 S/F 134 rs754116386 0.3078 None gnomAD-2.1.1 2.5E-05
5597 55 S/F 134 rs754116386 0.3078 None gnomAD-3.1.2 6.57E-06
5597 55 S/F 134 rs754116386 0.3078 None gnomAD-4.0.0 2.47882E-05
5597 55 S/P 134 rs757304144 0.3078 None gnomAD-2.1.1 4.02E-06
5598 56 T/A 135 rs1407842307 0.2683 None gnomAD-2.1.1 4.02E-06
5598 56 T/A 135 rs1407842307 0.2683 None gnomAD-4.0.0 1.36841E-06
5599 57 A/V 136 rs1194013551 0.0898 None gnomAD-4.0.0 3.1825E-06
5602 60 R/G 139 None 0.3599 None gnomAD-4.0.0 1.20032E-06
5603 61 L/R 140 rs956272919 0.1670 None gnomAD-3.1.2 6.57E-06
5603 61 L/R 140 rs956272919 0.1670 None gnomAD-4.0.0 6.81678E-06
5605 63 D/N 143 None 0.7916 None gnomAD-4.0.0 2.73689E-06
5606 64 V/A 144 rs1356962832 0.1246 None gnomAD-4.0.0 2.73687E-06
5606 64 V/F 144 None 0.1246 None gnomAD-4.0.0 1.59131E-06
5607 65 G/D 145 rs2080656904 0.1192 None gnomAD-4.0.0 6.36531E-06
5607 65 G/R 145 rs929034760 0.1192 None gnomAD-4.0.0 2.40064E-06
5607 65 G/S 145 None 0.1192 None gnomAD-4.0.0 1.20032E-06
5609 67 E/G 148 None 0.4335 None gnomAD-4.0.0 1.59132E-06
5609 67 E/K 148 rs374682077 0.4335 None gnomAD-2.1.1 3.22E-05
5609 67 E/K 148 rs374682077 0.4335 None gnomAD-3.1.2 7.89E-05
5609 67 E/K 148 rs374682077 0.4335 None gnomAD-4.0.0 2.04492E-05
5610 68 D/N 149 None 0.2198 None gnomAD-4.0.0 1.59136E-06
5611 69 S/R 151 rs775946529 0.2756 None gnomAD-2.1.1 4.02E-06
5611 69 S/R 151 rs775946529 0.2756 None gnomAD-4.0.0 1.59133E-06
5612 70 G/S 152 rs1060500588 0.2084 None gnomAD-4.0.0 1.59137E-06
5613 71 E/D 153 rs397517483 0.4814 None gnomAD-3.1.2 6.57E-06
5613 71 E/D 153 rs397517483 0.4814 None gnomAD-4.0.0 2.47881E-06
5613 71 E/Q 153 rs2080652790 0.4814 None gnomAD-4.0.0 1.59143E-06
5614 72 Y/C 154 rs2080651364 0.1672 None gnomAD-3.1.2 6.57E-06
5614 72 Y/C 154 rs2080651364 0.1672 None gnomAD-4.0.0 6.57073E-06
5615 73 M/I 155 None 0.1743 None gnomAD-4.0.0 1.20032E-06
5615 73 M/L 155 rs1392126225 0.1743 None gnomAD-4.0.0 1.59146E-06
5615 73 M/T 155 rs760133132 0.1743 None gnomAD-2.1.1 1.61E-05
5615 73 M/T 155 rs760133132 0.1743 None gnomAD-3.1.2 3.94E-05
5615 73 M/T 155 rs760133132 0.1743 None gnomAD-4.0.0 1.23944E-05
5616 74 C/R 156 None 0.0608 None gnomAD-4.0.0 1.20032E-06
5616 74 C/Y 156 rs1170057251 0.0608 None gnomAD-3.1.2 6.57E-06
5616 74 C/Y 156 rs1170057251 0.0608 None gnomAD-4.0.0 2.02985E-06
5618 76 A/V 158 rs774980198 0.0914 None gnomAD-2.1.1 1.61E-05
5618 76 A/V 158 rs774980198 0.0914 None gnomAD-3.1.2 6.57E-06
5618 76 A/V 158 rs774980198 0.0914 None gnomAD-4.0.0 6.19878E-06
5619 77 Q/E 159 None 0.4753 None gnomAD-4.0.0 1.59288E-06
5620 78 N/S 161 rs747660270 0.1950 None gnomAD-2.1.1 4.03E-06
5620 78 N/S 161 rs747660270 0.1950 None gnomAD-4.0.0 1.5932E-06
5622 80 A/S 163 rs1212075565 0.7587 None gnomAD-2.1.1 4.03E-06
5622 80 A/S 163 rs1212075565 0.7587 None gnomAD-3.1.2 1.31E-05
5622 80 A/S 163 rs1212075565 0.7587 None gnomAD-4.0.0 6.8213E-06
5622 80 A/V 163 None 0.7587 None gnomAD-4.0.0 1.20032E-06
5623 81 G/D 164 None 0.3081 None gnomAD-4.0.0 6.84853E-07
5623 81 G/V 164 rs768364912 0.3081 None gnomAD-2.1.1 2.02E-05
5623 81 G/V 164 rs768364912 0.3081 None gnomAD-4.0.0 5.47882E-06
5624 82 S/N 165 None 0.5259 None gnomAD-4.0.0 1.20032E-06
5624 82 S/T 165 None 0.5259 None gnomAD-4.0.0 6.00161E-06
5625 83 D/E 166 rs794729612 0.2163 None gnomAD-4.0.0 1.20032E-06
5625 83 D/V 166 rs746590786 0.2163 None gnomAD-2.1.1 1.43E-05
5625 83 D/V 166 rs746590786 0.2163 None gnomAD-3.1.2 6.57E-06
5625 83 D/V 166 rs746590786 0.2163 None gnomAD-4.0.0 2.85399E-05
5626 84 H/D 168 rs1226327061 0.6292 None gnomAD-2.1.1 4.04E-06
5626 84 H/D 168 rs1226327061 0.6292 None gnomAD-4.0.0 3.42588E-06
5626 84 H/Y 168 None 0.6292 None gnomAD-4.0.0 6.85176E-07
5627 85 C/R 169 rs779925659 0.0876 None gnomAD-2.1.1 1.21E-05
5627 85 C/R 169 rs779925659 0.0876 None gnomAD-3.1.2 1.31E-05
5627 85 C/R 169 rs779925659 0.0876 None gnomAD-4.0.0 3.72368E-06
5628 86 S/G 171 None 0.2770 None gnomAD-4.0.0 1.59846E-06
5628 86 S/N 171 None 0.2770 None gnomAD-4.0.0 3.19927E-06
5628 86 S/R 171 None 0.2770 None gnomAD-4.0.0 2.40064E-06
5629 87 S/N 172 rs758096327 0.1052 None gnomAD-2.1.1 4.06E-06
5629 87 S/N 172 rs758096327 0.1052 None gnomAD-4.0.0 6.40629E-06
5630 88 I/T 173 rs2080640128 0.5238 None gnomAD-4.0.0 2.75152E-06
5631 89 V/I 174 rs778807865 0.1296 None gnomAD-2.1.1 1.64E-05
5631 89 V/I 174 rs778807865 0.1296 None gnomAD-3.1.2 1.31E-05
5631 89 V/I 174 rs778807865 0.1296 None gnomAD-4.0.0 1.55489E-05
5632 90 I/R 175 None 0.4115 None gnomAD-4.0.0 6.88696E-07
5632 90 I/T 175 rs727504971 0.4115 None gnomAD-3.1.2 1.31E-05
5632 90 I/T 175 rs727504971 0.4115 None gnomAD-4.0.0 1.87008E-06
5633 91 V/I 177 None 0.1115 None gnomAD-4.0.0 1.61996E-06