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

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
15480 1 V/L 1 rs777031546 0.3415 None gnomAD-2.1.1 8.29E-06
15480 1 V/L 1 rs777031546 0.3415 None gnomAD-4.0.0 1.60893E-06
15481 2 E/Q 2 None 0.4012 None gnomAD-4.0.0 2.40064E-06
15483 4 I/V 4 None 0.4282 None gnomAD-4.0.0 1.59994E-06
15484 5 R/K 5 rs72677229 0.5511 None gnomAD-2.1.1 1.91319E-04
15484 5 R/K 5 rs72677229 0.5511 None gnomAD-3.1.2 2.30597E-04
15484 5 R/K 5 rs72677229 0.5511 None gnomAD-4.0.0 2.99292E-04
15484 5 R/M 5 rs72677229 0.5511 None gnomAD-2.1.1 8.14E-06
15484 5 R/M 5 rs72677229 0.5511 None gnomAD-4.0.0 3.42774E-06
15485 6 P/A 7 rs1334870025 0.4629 None gnomAD-3.1.2 6.59E-06
15485 6 P/A 7 rs1334870025 0.4629 None gnomAD-4.0.0 6.58016E-06
15485 6 P/L 7 None 0.4629 None gnomAD-4.0.0 1.20032E-06
15485 6 P/T 7 rs1334870025 0.4629 None gnomAD-2.1.1 4.06E-06
15485 6 P/T 7 rs1334870025 0.4629 None gnomAD-4.0.0 6.16823E-06
15486 7 P/L 8 rs1234009054 0.1614 None gnomAD-2.1.1 3.19E-05
15486 7 P/L 8 rs1234009054 0.1614 None gnomAD-3.1.2 1.98E-05
15486 7 P/L 8 rs1234009054 0.1614 None gnomAD-4.0.0 1.97582E-05
15486 7 P/S 8 rs907482265 0.1614 None gnomAD-2.1.1 1.22E-05
15486 7 P/S 8 rs907482265 0.1614 None gnomAD-4.0.0 2.74154E-06
15487 8 Q/E 9 None 0.8260 None gnomAD-4.0.0 6.85105E-07
15487 8 Q/K 9 None 0.8260 None gnomAD-4.0.0 6.85105E-07
15487 8 Q/P 9 None 0.8260 None gnomAD-4.0.0 2.40064E-06
15487 8 Q/R 9 None 0.8260 None gnomAD-4.0.0 1.20032E-06
15490 11 L/I 14 None 0.5650 None gnomAD-4.0.0 1.20032E-06
15492 13 A/D 18 None 0.2924 None gnomAD-4.0.0 1.59536E-06
15492 13 A/T 18 rs1370664332 0.2924 None gnomAD-2.1.1 4.05E-06
15492 13 A/T 18 rs1370664332 0.2924 None gnomAD-4.0.0 3.19057E-06
15493 14 P/S 23 rs1173523537 0.3213 None gnomAD-4.0.0 1.59509E-06
15494 15 G/V 24 rs1433448268 0.2787 None gnomAD-2.1.1 4.05E-06
15494 15 G/V 24 rs1433448268 0.2787 None gnomAD-4.0.0 1.59492E-06
15495 16 A/D 25 rs376839162 0.1985 None gnomAD-2.1.1 3.19E-05
15495 16 A/D 25 rs376839162 0.1985 None gnomAD-4.0.0 2.05469E-06
15495 16 A/T 25 rs537428006 0.1985 None gnomAD-2.1.1 1.05152E-04
15495 16 A/T 25 rs537428006 0.1985 None gnomAD-3.1.2 1.32E-05
15495 16 A/T 25 rs537428006 0.1985 None gnomAD-4.0.0 5.335E-05
15496 17 D/V 26 rs755301020 0.5590 None gnomAD-4.0.0 2.40064E-06
15497 18 V/A 28 rs2057998545 0.1617 None gnomAD-4.0.0 3.18911E-06
15497 18 V/F 28 rs371299188 0.1617 None gnomAD-2.1.1 8.49E-05
15497 18 V/F 28 rs371299188 0.1617 None gnomAD-3.1.2 5.27E-05
15497 18 V/F 28 rs371299188 0.1617 None 1000 genomes 5.99042E-04
15497 18 V/F 28 rs371299188 0.1617 None gnomAD-4.0.0 3.22538E-05
15499 20 F/V 30 None 0.1060 None gnomAD-4.0.0 1.5945E-06
15500 21 L/S 31 rs529804754 0.3034 None gnomAD-2.1.1 4.04E-06
15500 21 L/S 31 rs529804754 0.3034 None gnomAD-3.1.2 6.58E-06
15500 21 L/S 31 rs529804754 0.3034 None 1000 genomes 1.99681E-04
15500 21 L/S 31 rs529804754 0.3034 None gnomAD-4.0.0 6.57817E-06
15501 22 A/T 33 None 0.0712 None gnomAD-4.0.0 1.59457E-06
15501 22 A/V 33 None 0.0712 None gnomAD-4.0.0 1.59458E-06
15502 23 E/K 34 None 0.2740 None gnomAD-4.0.0 6.84809E-07
15502 23 E/Q 34 rs2057996369 0.2740 None gnomAD-4.0.0 6.84809E-07
15503 24 L/V 35 None 0.1145 None gnomAD-4.0.0 1.20032E-06
15504 25 N/S 38 rs1184631064 0.3396 None gnomAD-2.1.1 8.07E-06
15504 25 N/S 38 rs1184631064 0.3396 None gnomAD-3.1.2 1.32E-05
15504 25 N/S 38 rs1184631064 0.3396 None gnomAD-4.0.0 6.82305E-06
15506 27 D/H 41 rs755611206 0.4714 None gnomAD-2.1.1 1.07E-05
15506 27 D/H 41 rs755611206 0.4714 None gnomAD-3.1.2 2.63E-05
15506 27 D/H 41 rs755611206 0.4714 None gnomAD-4.0.0 3.28747E-05
15506 27 D/V 41 rs748069813 0.4714 None gnomAD-2.1.1 4.03E-06
15506 27 D/V 41 rs748069813 0.4714 None gnomAD-4.0.0 1.59429E-06
15506 27 D/Y 41 rs755611206 0.4714 None gnomAD-4.0.0 6.84772E-07
15507 28 K/N 43 rs781291079 0.8935 None gnomAD-2.1.1 8.07E-06
15507 28 K/N 43 rs781291079 0.8935 None gnomAD-4.0.0 3.42382E-06
15510 31 V/L 46 rs754751783 0.2493 None gnomAD-2.1.1 4.03E-06
15510 31 V/L 46 rs754751783 0.2493 None gnomAD-4.0.0 3.18814E-06
15512 33 W/R 48 None 0.1323 None gnomAD-4.0.0 1.20033E-06
15517 38 M/T 55 rs1349699547 0.6850 None gnomAD-2.1.1 4.03E-06
15517 38 M/T 55 rs1349699547 0.6850 None gnomAD-4.0.0 1.36942E-06
15517 38 M/V 55 rs751464964 0.6850 None gnomAD-2.1.1 1.61E-05
15517 38 M/V 55 rs751464964 0.6850 None gnomAD-4.0.0 9.56376E-06
15518 39 V/A 56 None 0.4559 None gnomAD-4.0.0 1.59394E-06
15518 39 V/F 56 None 0.4559 None gnomAD-4.0.0 1.20033E-06
15518 39 V/I 56 None 0.4559 None gnomAD-4.0.0 1.20033E-06
15519 40 V/I 58 rs1277355095 0.1701 None gnomAD-2.1.1 4.03E-06
15519 40 V/I 58 rs1277355095 0.1701 None gnomAD-4.0.0 1.36941E-06
15520 41 V/F 59 rs2057990397 0.7223 None gnomAD-4.0.0 1.59391E-06
15521 42 Q/K 70 rs758692633 0.4468 None gnomAD-2.1.1 1.07E-05
15521 42 Q/K 70 rs758692633 0.4468 None gnomAD-3.1.2 1.32E-05
15521 42 Q/K 70 rs758692633 0.4468 None gnomAD-4.0.0 1.31837E-05
15522 43 G/R 73 rs750435043 0.2816 None gnomAD-2.1.1 3.22E-05
15522 43 G/R 73 rs750435043 0.2816 None gnomAD-3.1.2 2.64E-05
15522 43 G/R 73 rs750435043 0.2816 None gnomAD-4.0.0 8.12541E-05
15522 43 G/V 73 rs1246339782 0.2816 None gnomAD-4.0.0 1.59392E-06
15523 44 D/E 111 rs1553713980 1.1030 None gnomAD-4.0.0 1.4345E-05
15524 45 K/E 115 rs548285460 0.2062 None gnomAD-4.0.0 1.20033E-06
15525 46 H/R 121 rs1313832139 0.2751 None gnomAD-3.1.2 6.59E-06
15525 46 H/R 121 rs1313832139 0.2751 None gnomAD-4.0.0 2.03062E-06
15525 46 H/Y 121 rs1413462312 0.2751 None gnomAD-2.1.1 8.06E-06
15525 46 H/Y 121 rs1413462312 0.2751 None gnomAD-4.0.0 1.5938E-06
15526 47 Q/L 122 None 0.3857 None gnomAD-4.0.0 1.5938E-06
15527 48 M/I 123 rs1310174493 0.2044 None gnomAD-2.1.1 9.57E-05
15527 48 M/I 123 rs1310174493 0.2044 None gnomAD-3.1.2 1.98E-05
15527 48 M/I 123 rs1310174493 0.2044 None gnomAD-4.0.0 4.3416E-06
15527 48 M/K 123 rs77496539 0.2044 None gnomAD-2.1.1 1.2084E-04
15527 48 M/K 123 rs77496539 0.2044 None gnomAD-3.1.2 7.91E-05
15527 48 M/K 123 rs77496539 0.2044 None 1000 genomes 9.98403E-04
15527 48 M/K 123 rs77496539 0.2044 None gnomAD-4.0.0 1.47602E-04
15527 48 M/L 123 None 0.2044 None gnomAD-4.0.0 1.59382E-06
15527 48 M/R 123 None 0.2044 None gnomAD-4.0.0 6.84686E-07
15528 49 M/L 125 None 0.4146 None gnomAD-4.0.0 3.18777E-06
15529 50 S/N 127 None 0.5073 None gnomAD-4.0.0 6.84693E-07
15531 52 G/R 131 rs761815745 0.3575 None gnomAD-2.1.1 3.63E-05
15531 52 G/R 131 rs761815745 0.3575 None gnomAD-3.1.2 6.59E-06
15531 52 G/R 131 rs761815745 0.3575 None gnomAD-4.0.0 6.58918E-06
15533 54 I/L 135 rs1406271344 0.3552 None gnomAD-2.1.1 4.03E-06
15533 54 I/L 135 rs1406271344 0.3552 None gnomAD-4.0.0 1.5939E-06
15533 54 I/T 135 rs777059640 0.3552 None gnomAD-2.1.1 4.03E-06
15533 54 I/T 135 rs777059640 0.3552 None gnomAD-3.1.2 6.59E-06
15533 54 I/T 135 rs777059640 0.3552 None gnomAD-4.0.0 1.86067E-06
15533 54 I/V 135 None 0.3552 None gnomAD-4.0.0 1.5939E-06
15535 56 R/Q 137 rs761015674 0.4092 None gnomAD-2.1.1 2.02E-05
15535 56 R/Q 137 rs761015674 0.4092 None gnomAD-4.0.0 1.36449E-05
15536 57 L/Q 138 rs775884428 0.0722 None gnomAD-2.1.1 2.42E-05
15536 57 L/Q 138 rs775884428 0.0722 None gnomAD-4.0.0 8.9016E-06
15540 61 D/G 143 rs1184454225 0.4288 None gnomAD-3.1.2 6.58E-06
15540 61 D/G 143 rs1184454225 0.4288 None gnomAD-4.0.0 2.567E-06
15541 62 I/M 144 rs2057981019 0.0745 None gnomAD-3.1.2 6.59E-06
15541 62 I/M 144 rs2057981019 0.0745 None gnomAD-4.0.0 6.58536E-06
15543 64 P/S 146 None 0.3775 None gnomAD-4.0.0 1.59436E-06
15543 64 P/T 146 None 0.3775 None gnomAD-4.0.0 1.59436E-06
15544 65 R/C 148 rs748932192 0.6780 None gnomAD-2.1.1 4.44E-05
15544 65 R/C 148 rs748932192 0.6780 None gnomAD-3.1.2 6.59E-06
15544 65 R/C 148 rs748932192 0.6780 None gnomAD-4.0.0 1.24062E-05
15544 65 R/H 148 rs772760901 0.6780 None gnomAD-2.1.1 2.02E-05
15544 65 R/H 148 rs772760901 0.6780 None gnomAD-4.0.0 5.47836E-06
15544 65 R/L 148 None 0.6780 None gnomAD-4.0.0 6.84795E-07
15545 66 D/E 149 None 0.1435 None gnomAD-4.0.0 2.40064E-06
15546 67 Q/E 151 None 0.2250 None gnomAD-4.0.0 1.59456E-06
15546 67 Q/H 151 None 0.2250 None gnomAD-4.0.0 1.59453E-06
15546 67 Q/P 151 rs2057979047 0.2250 None gnomAD-3.1.2 6.58E-06
15546 67 Q/P 151 rs2057979047 0.2250 None gnomAD-4.0.0 6.58354E-06
15547 68 G/D 152 None 0.2792 None gnomAD-4.0.0 2.05445E-06
15547 68 G/R 152 rs769290450 0.2792 None gnomAD-4.0.0 6.84818E-07
15547 68 G/S 152 rs769290450 0.2792 None gnomAD-2.1.1 4.03E-06
15547 68 G/S 152 rs769290450 0.2792 None gnomAD-4.0.0 3.42409E-06
15548 69 E/A 153 None 0.3702 None gnomAD-4.0.0 6.84835E-07
15548 69 E/Q 153 rs1364430603 0.3702 None gnomAD-3.1.2 6.58E-06
15548 69 E/Q 153 rs1364430603 0.3702 None gnomAD-4.0.0 6.58458E-06
15548 69 E/V 153 rs1281939698 0.3702 None gnomAD-2.1.1 4.04E-06
15548 69 E/V 153 rs1281939698 0.3702 None gnomAD-4.0.0 6.84835E-07
15549 70 Y/H 154 None 0.1134 None gnomAD-4.0.0 1.59465E-06
15550 71 R/I 155 rs1229831088 0.2409 None gnomAD-2.1.1 4.04E-06
15550 71 R/I 155 rs1229831088 0.2409 None gnomAD-4.0.0 6.84868E-07
15550 71 R/T 155 None 0.2409 None gnomAD-4.0.0 6.84868E-07
15551 72 F/L 156 None 0.0922 None gnomAD-4.0.0 1.20032E-06
15551 72 F/Y 156 rs1329504399 0.0922 None gnomAD-2.1.1 4.04E-06
15551 72 F/Y 156 rs1329504399 0.0922 None gnomAD-4.0.0 1.59486E-06
15552 73 I/T 157 rs1292128337 0.2351 None gnomAD-2.1.1 4.04E-06
15552 73 I/T 157 rs1292128337 0.2351 None gnomAD-4.0.0 3.18972E-06
15555 76 D/H 161 None 0.6838 None gnomAD-4.0.0 6.84902E-07
15555 76 D/N 161 rs754162662 0.6838 None gnomAD-4.0.0 6.84902E-07
15556 77 K/E 162 rs747614888 0.2686 None gnomAD-2.1.1 8.07E-06
15556 77 K/E 162 rs747614888 0.2686 None gnomAD-3.1.2 6.58E-06
15556 77 K/E 162 rs747614888 0.2686 None gnomAD-4.0.0 8.68537E-06
15556 77 K/R 162 None 0.2686 None gnomAD-4.0.0 1.59509E-06
15557 78 E/D 163 None 0.4495 None gnomAD-4.0.0 1.59527E-06
15557 78 E/K 163 None 0.4495 None gnomAD-4.0.0 6.84954E-07
15560 81 A/G 172 rs2057972776 0.0960 None gnomAD-3.1.2 6.58E-06
15560 81 A/G 172 rs2057972776 0.0960 None gnomAD-4.0.0 6.58467E-06
15561 82 K/N 173 None 0.5490 None gnomAD-4.0.0 1.20032E-06
15562 83 L/F 174 rs755020461 0.1249 None gnomAD-2.1.1 1.62E-05
15562 83 L/F 174 rs755020461 0.1249 None gnomAD-3.1.2 6.58E-06
15562 83 L/F 174 rs755020461 0.1249 None gnomAD-4.0.0 3.10251E-06
15562 83 L/V 174 rs755020461 0.1249 None gnomAD-3.1.2 6.58E-06
15562 83 L/V 174 rs755020461 0.1249 None gnomAD-4.0.0 8.68702E-06
15565 86 A/S 178 rs145520397 0.1676 None gnomAD-2.1.1 6.06953E-04
15565 86 A/S 178 rs145520397 0.1676 None gnomAD-3.1.2 1.81698E-03
15565 86 A/S 178 rs145520397 0.1676 None 1000 genomes 1.19808E-03
15565 86 A/S 178 rs145520397 0.1676 None gnomAD-4.0.0 3.525E-04