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

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
24323 1 K/E 1 rs143241129 0.3940 None gnomAD-2.1.1 2.02E-05
24323 1 K/E 1 rs143241129 0.3940 None gnomAD-3.1.2 3.29E-05
24323 1 K/E 1 rs143241129 0.3940 None 1000 genomes 5.99042E-04
24323 1 K/E 1 rs143241129 0.3940 None gnomAD-4.0.0 5.14642E-05
24323 1 K/N 1 None 0.3940 None gnomAD-4.0.0 1.59363E-06
24325 3 G/R 3 rs755886285 0.3201 None gnomAD-2.1.1 2.15E-05
24325 3 G/R 3 rs755886285 0.3201 None gnomAD-3.1.2 2.63E-05
24325 3 G/R 3 rs755886285 0.3201 None gnomAD-4.0.0 1.02634E-05
24326 4 P/L 4 None 0.4334 None gnomAD-4.0.0 1.59308E-06
24326 4 P/S 4 None 0.4334 None gnomAD-4.0.0 1.20033E-06
24327 5 P/Q 5 rs748006828 0.1725 None gnomAD-2.1.1 4.03E-06
24327 5 P/Q 5 rs748006828 0.1725 None gnomAD-4.0.0 1.59301E-06
24330 8 P/S 9 rs878888593 0.1990 None gnomAD-4.0.0 1.59259E-06
24331 9 R/C 11 rs376591763 0.2376 None gnomAD-2.1.1 2.01E-05
24331 9 R/C 11 rs376591763 0.2376 None gnomAD-3.1.2 1.32E-05
24331 9 R/C 11 rs376591763 0.2376 None gnomAD-4.0.0 3.96748E-05
24331 9 R/H 11 rs755174224 0.2376 None gnomAD-2.1.1 1.32321E-04
24331 9 R/H 11 rs755174224 0.2376 None gnomAD-3.1.2 5.92E-05
24331 9 R/H 11 rs755174224 0.2376 None gnomAD-4.0.0 2.47967E-05
24332 10 V/F 12 rs876658081 0.3369 None gnomAD-3.1.2 6.58E-06
24332 10 V/F 12 rs876658081 0.3369 None gnomAD-4.0.0 4.95917E-06
24332 10 V/I 12 rs876658081 0.3369 None gnomAD-4.0.0 6.84416E-07
24334 12 D/Y 14 None 0.4937 None gnomAD-4.0.0 2.40064E-06
24335 13 T/I 15 rs766442878 0.2849 None gnomAD-2.1.1 4.03E-06
24335 13 T/I 15 rs766442878 0.2849 None gnomAD-4.0.0 3.18448E-06
24336 14 S/G 16 rs1708845261 0.2455 None gnomAD-3.1.2 6.58E-06
24336 14 S/G 16 rs1708845261 0.2455 None gnomAD-4.0.0 6.57601E-06
24336 14 S/N 16 None 0.2455 None gnomAD-4.0.0 1.59227E-06
24337 15 R/T 17 None 0.5039 None gnomAD-4.0.0 2.40064E-06
24338 16 S/P 18 None 0.3904 None gnomAD-4.0.0 2.7376E-06
24340 18 I/T 20 None 0.1362 None gnomAD-4.0.0 1.59224E-06
24341 19 S/A 21 rs1397935154 0.1818 None gnomAD-2.1.1 3.19E-05
24341 19 S/A 21 rs1397935154 0.1818 None gnomAD-3.1.2 6.58E-06
24341 19 S/A 21 rs1397935154 0.1818 None gnomAD-4.0.0 2.56383E-06
24341 19 S/L 21 rs568799517 0.1818 None gnomAD-4.0.0 1.3688E-06
24342 20 I/M 22 None 0.1197 None gnomAD-4.0.0 2.05324E-06
24342 20 I/T 22 None 0.1197 None gnomAD-4.0.0 3.18465E-06
24342 20 I/V 22 rs1051443527 0.1197 None gnomAD-2.1.1 8.05E-06
24342 20 I/V 22 rs1051443527 0.1197 None gnomAD-4.0.0 4.10641E-06
24343 21 A/G 23 None 0.1066 None gnomAD-4.0.0 1.20032E-06
24343 21 A/S 23 rs72646895 0.1066 None gnomAD-2.1.1 4.03E-06
24343 21 A/S 23 rs72646895 0.1066 None gnomAD-4.0.0 1.36884E-06
24343 21 A/T 23 rs72646895 0.1066 None gnomAD-2.1.1 3.57E-05
24343 21 A/T 23 rs72646895 0.1066 None gnomAD-3.1.2 1.71077E-04
24343 21 A/T 23 rs72646895 0.1066 None gnomAD-4.0.0 3.71961E-05
24344 22 W/C 24 None 0.1106 None gnomAD-4.0.0 1.59238E-06
24344 22 W/L 24 None 0.1106 None gnomAD-4.0.0 1.59234E-06
24347 25 P/L 27 rs762412998 0.2189 None gnomAD-2.1.1 3.22E-05
24347 25 P/L 27 rs762412998 0.2189 None gnomAD-4.0.0 9.55454E-06
24347 25 P/S 27 None 0.2189 None gnomAD-4.0.0 3.60097E-06
24348 26 I/L 28 rs1708838358 1.2122 None gnomAD-4.0.0 1.36885E-06
24348 26 I/S 28 rs1708837698 1.2122 None gnomAD-4.0.0 1.59241E-06
24348 26 I/V 28 None 1.2122 None gnomAD-4.0.0 1.36885E-06
24349 27 Y/C 29 None 0.4589 None gnomAD-4.0.0 1.36884E-06
24349 27 Y/N 29 rs1559421745 0.4589 None gnomAD-2.1.1 4.03E-06
24349 27 Y/N 29 rs1559421745 0.4589 None gnomAD-4.0.0 4.80129E-06
24350 28 D/H 30 rs751015119 0.3431 None gnomAD-2.1.1 4.03E-06
24350 28 D/H 30 rs751015119 0.3431 None gnomAD-3.1.2 6.58E-06
24350 28 D/H 30 rs751015119 0.3431 None gnomAD-4.0.0 4.9592E-06
24350 28 D/N 30 None 0.3431 None gnomAD-4.0.0 8.21309E-06
24351 29 G/S 31 rs1420684207 0.2088 None gnomAD-3.1.2 6.58E-06
24351 29 G/S 31 rs1420684207 0.2088 None gnomAD-4.0.0 3.84607E-06
24352 30 G/A 32 None 0.5921 None gnomAD-4.0.0 1.20032E-06
24352 30 G/R 32 rs776994068 0.5921 None gnomAD-2.1.1 8.05E-06
24352 30 G/R 32 rs776994068 0.5921 None gnomAD-4.0.0 3.1849E-06
24352 30 G/S 32 None 0.5921 None gnomAD-4.0.0 1.59245E-06
24352 30 G/V 32 rs1708827755 0.5921 None gnomAD-4.0.0 1.20032E-06
24356 34 T/A 36 rs1489472949 0.5335 None gnomAD-2.1.1 4.03E-06
24356 34 T/A 36 rs1489472949 0.5335 None gnomAD-4.0.0 1.59247E-06
24356 34 T/I 36 None 0.5335 None gnomAD-4.0.0 1.59248E-06
24357 35 G/V 37 None 0.1960 None gnomAD-4.0.0 1.20032E-06
24358 36 Y/C 38 rs368124487 0.1862 None gnomAD-2.1.1 4.03E-06
24358 36 Y/C 38 rs368124487 0.1862 None gnomAD-4.0.0 1.36888E-06
24358 36 Y/F 38 rs368124487 0.1862 None gnomAD-2.1.1 5.01E-05
24358 36 Y/F 38 rs368124487 0.1862 None gnomAD-3.1.2 7.23E-05
24358 36 Y/F 38 rs368124487 0.1862 None gnomAD-4.0.0 1.00427E-04
24359 37 M/T 39 rs1368475411 0.3534 None gnomAD-3.1.2 6.58E-06
24359 37 M/T 39 rs1368475411 0.3534 None gnomAD-4.0.0 2.56396E-06
24359 37 M/V 39 rs1469212493 0.3534 None gnomAD-2.1.1 3.19E-05
24359 37 M/V 39 rs1469212493 0.3534 None gnomAD-3.1.2 6.58E-06
24359 37 M/V 39 rs1469212493 0.3534 None gnomAD-4.0.0 6.5754E-06
24360 38 V/F 40 None 0.1297 None gnomAD-4.0.0 4.79115E-06
24360 38 V/L 40 None 0.1297 None gnomAD-4.0.0 6.84451E-07
24361 39 E/K 41 None 0.1539 None gnomAD-4.0.0 6.84462E-07
24361 39 E/Q 41 None 0.1539 None gnomAD-4.0.0 6.84462E-07
24362 40 I/T 42 rs1708819361 0.1626 None gnomAD-3.1.2 6.58E-06
24362 40 I/T 42 rs1708819361 0.1626 None gnomAD-4.0.0 3.0452E-06
24365 43 P/S 50 None 0.2448 None gnomAD-4.0.0 2.40064E-06
24366 44 E/K 54 rs1708815210 0.7478 None gnomAD-3.1.2 6.58E-06
24366 44 E/K 54 rs1708815210 0.7478 None gnomAD-4.0.0 6.57523E-06
24366 44 E/V 54 rs1708814132 0.7478 None gnomAD-4.0.0 1.59269E-06
24367 45 E/A 60 None 0.4474 None gnomAD-4.0.0 6.84487E-07
24367 45 E/D 60 rs1357419691 0.4474 None gnomAD-2.1.1 4.03E-06
24367 45 E/D 60 rs1357419691 0.4474 None gnomAD-4.0.0 3.18567E-06
24367 45 E/V 60 None 0.4474 None gnomAD-4.0.0 1.36897E-06
24368 46 D/H 63 None 0.9937 None gnomAD-4.0.0 6.84511E-07
24368 46 D/N 63 None 0.9937 None gnomAD-4.0.0 1.36902E-06
24368 46 D/Y 63 rs886042474 0.9937 None gnomAD-4.0.0 6.84511E-07
24370 48 W/C 65 rs1261582084 0.2847 None gnomAD-3.1.2 1.32E-05
24370 48 W/C 65 rs1261582084 0.2847 None gnomAD-4.0.0 1.23999E-05
24370 48 W/R 65 rs879236420 0.2847 None gnomAD-2.1.1 4.03E-06
24370 48 W/R 65 rs879236420 0.2847 None gnomAD-3.1.2 6.58E-06
24370 48 W/R 65 rs879236420 0.2847 None gnomAD-4.0.0 6.57531E-06
24371 49 Q/H 66 None 0.6774 None gnomAD-4.0.0 2.05351E-06
24371 49 Q/K 66 rs1319568037 0.6774 None gnomAD-3.1.2 1.32E-05
24371 49 Q/K 66 rs1319568037 0.6774 None gnomAD-4.0.0 1.23995E-05
24375 53 P/L 70 rs376041680 0.5747 None gnomAD-2.1.1 8.07E-06
24375 53 P/L 70 rs376041680 0.5747 None gnomAD-4.0.0 3.62785E-05
24375 53 P/T 70 None 0.5747 None gnomAD-4.0.0 1.59281E-06
24377 55 A/T 74 None 0.7986 None gnomAD-4.0.0 4.80129E-06
24378 56 G/A 75 None 0.3472 None gnomAD-4.0.0 1.20032E-06
24379 57 L/R 77 None 0.2447 None gnomAD-4.0.0 1.59273E-06
24380 58 K/E 83 None 1.0072 None gnomAD-4.0.0 2.73793E-06
24381 59 A/S 88 rs762504227 0.3559 None gnomAD-2.1.1 4.04E-06
24381 59 A/S 88 rs762504227 0.3559 None gnomAD-4.0.0 1.59288E-06
24382 60 T/N 89 None 0.2654 None gnomAD-4.0.0 1.59273E-06
24383 61 S/L 90 rs368415251 0.3362 None gnomAD-2.1.1 1.79E-05
24383 61 S/L 90 rs368415251 0.3362 None gnomAD-3.1.2 3.95E-05
24383 61 S/L 90 rs368415251 0.3362 None gnomAD-4.0.0 7.4395E-06
24384 62 Y/C 91 rs1298487582 0.2900 None gnomAD-2.1.1 8.08E-06
24384 62 Y/C 91 rs1298487582 0.2900 None gnomAD-3.1.2 6.57E-06
24384 62 Y/C 91 rs1298487582 0.2900 None gnomAD-4.0.0 6.81924E-06
24385 63 T/A 92 rs1403922674 0.3733 None gnomAD-2.1.1 1.08E-05
24385 63 T/A 92 rs1403922674 0.3733 None gnomAD-3.1.2 1.97E-05
24385 63 T/A 92 rs1403922674 0.3733 None gnomAD-4.0.0 5.57937E-06
24386 64 I/V 93 rs780995546 0.1993 None gnomAD-2.1.1 2.02E-05
24386 64 I/V 93 rs780995546 0.1993 None gnomAD-3.1.2 2.63E-05
24386 64 I/V 93 rs780995546 0.1993 None gnomAD-4.0.0 1.41029E-05
24387 65 T/I 94 None 0.6903 None gnomAD-4.0.0 1.59265E-06
24388 66 G/S 96 rs768369089 0.5662 None gnomAD-2.1.1 4.04E-06
24388 66 G/S 96 rs768369089 0.5662 None gnomAD-3.1.2 6.58E-06
24388 66 G/S 96 rs768369089 0.5662 None gnomAD-4.0.0 2.56421E-06
24390 68 T/A 98 rs182491843 0.5735 None gnomAD-2.1.1 6.23866E-04
24390 68 T/A 98 rs182491843 0.5735 None gnomAD-3.1.2 1.86709E-03
24390 68 T/A 98 rs182491843 0.5735 None 1000 genomes 1.19808E-03
24390 68 T/A 98 rs182491843 0.5735 None gnomAD-4.0.0 3.60152E-04
24390 68 T/K 98 rs1060500583 0.5735 None gnomAD-4.0.0 1.20032E-06
24391 69 E/D 99 None 0.4347 None gnomAD-4.0.0 6.84461E-07
24391 69 E/G 99 None 0.4347 None gnomAD-4.0.0 1.36891E-06
24391 69 E/K 99 rs1479035090 0.4347 None gnomAD-2.1.1 4.04E-06
24391 69 E/K 99 rs1479035090 0.4347 None gnomAD-4.0.0 6.84461E-07
24391 69 E/Q 99 None 0.4347 None gnomAD-4.0.0 2.05338E-06
24392 70 N/S 100 None 0.5323 None gnomAD-4.0.0 2.05335E-06
24394 72 E/D 103 rs750460710 0.3118 None gnomAD-2.1.1 4.04E-06
24394 72 E/D 103 rs750460710 0.3118 None gnomAD-3.1.2 6.57E-06
24394 72 E/D 103 rs750460710 0.3118 None gnomAD-4.0.0 7.43885E-06
24395 73 Y/H 104 rs1489927926 0.1606 None gnomAD-2.1.1 4.04E-06
24395 73 Y/H 104 rs1489927926 0.1606 None gnomAD-4.0.0 1.59254E-06
24397 75 I/M 106 rs1269666445 0.1654 None gnomAD-2.1.1 4.04E-06
24397 75 I/M 106 rs1269666445 0.1654 None gnomAD-4.0.0 1.59249E-06
24398 76 R/C 107 rs779146599 0.1687 None gnomAD-2.1.1 4.04E-06
24398 76 R/C 107 rs779146599 0.1687 None gnomAD-4.0.0 1.30044E-05
24398 76 R/H 107 rs757790881 0.1687 None gnomAD-2.1.1 4.04E-06
24398 76 R/H 107 rs757790881 0.1687 None gnomAD-3.1.2 1.97E-05
24398 76 R/H 107 rs757790881 0.1687 None gnomAD-4.0.0 6.19929E-06
24398 76 R/P 107 None 0.1687 None gnomAD-4.0.0 6.84434E-07
24398 76 R/S 107 None 0.1687 None gnomAD-4.0.0 6.84443E-07
24402 80 M/I 111 rs868393238 0.3139 None gnomAD-4.0.0 9.58169E-06
24402 80 M/T 111 rs903200206 0.3139 None gnomAD-3.1.2 6.58E-06
24402 80 M/T 111 rs903200206 0.3139 None gnomAD-4.0.0 6.57514E-06
24404 82 S/Y 113 None 0.4722 None gnomAD-4.0.0 1.36879E-06
24405 83 E/D 114 rs1027579307 0.4949 None gnomAD-2.1.1 4.04E-06
24405 83 E/D 114 rs1027579307 0.4949 None gnomAD-4.0.0 1.59222E-06
24405 83 E/K 114 rs764485436 0.4949 None gnomAD-2.1.1 3.23E-05
24405 83 E/K 114 rs764485436 0.4949 None gnomAD-4.0.0 1.02659E-05
24407 85 L/F 117 rs760989943 0.6589 None gnomAD-2.1.1 4.03E-06
24407 85 L/F 117 rs760989943 0.6589 None gnomAD-4.0.0 3.1844E-06
24407 85 L/H 117 rs72646896 0.6589 None gnomAD-2.1.1 1.21E-05
24407 85 L/H 117 rs72646896 0.6589 None gnomAD-4.0.0 2.05315E-06
24407 85 L/P 117 rs72646896 0.6589 None gnomAD-4.0.0 1.36877E-06
24407 85 L/V 117 rs760989943 0.6589 None gnomAD-3.1.2 6.58E-06
24407 85 L/V 117 rs760989943 0.6589 None gnomAD-4.0.0 6.57592E-06
24408 86 G/R 118 rs1386903866 0.2865 None gnomAD-4.0.0 1.59221E-06
24409 87 E/Q 119 rs762601217 0.6089 None gnomAD-2.1.1 4.03E-06
24409 87 E/Q 119 rs762601217 0.6089 None gnomAD-4.0.0 1.59221E-06
24410 88 P/L 120 rs368510432 0.3862 None gnomAD-3.1.2 6.57E-06
24410 88 P/L 120 rs368510432 0.3862 None gnomAD-4.0.0 2.56358E-06
24410 88 P/S 120 None 0.3862 None gnomAD-4.0.0 1.5922E-06
24411 89 A/D 121 rs55991022 0.1565 None gnomAD-2.1.1 4.03E-06
24411 89 A/D 121 rs55991022 0.1565 None gnomAD-3.1.2 6.58E-06
24411 89 A/D 121 rs55991022 0.1565 None 1000 genomes 1.99681E-04
24411 89 A/D 121 rs55991022 0.1565 None gnomAD-4.0.0 1.48757E-05
24411 89 A/T 121 rs772653954 0.1565 None gnomAD-2.1.1 4.03E-06
24411 89 A/T 121 rs772653954 0.1565 None gnomAD-4.0.0 2.05313E-06
24413 91 V/F 123 None 0.1855 None gnomAD-4.0.0 1.59214E-06
24414 92 P/R 124 rs769320646 0.6597 None gnomAD-2.1.1 4.03E-06
24414 92 P/R 124 rs769320646 0.6597 None gnomAD-4.0.0 2.05312E-06
24415 93 G/A 125 rs776473891 0.5171 None gnomAD-2.1.1 4.03E-06
24415 93 G/A 125 rs776473891 0.5171 None gnomAD-4.0.0 1.36873E-06
24415 93 G/R 125 rs761774167 0.5171 None gnomAD-2.1.1 4.03E-06
24415 93 G/R 125 rs761774167 0.5171 None gnomAD-4.0.0 1.59215E-06
24416 94 T/I 126 rs768476881 0.3631 None gnomAD-2.1.1 1.79E-05
24416 94 T/I 126 rs768476881 0.3631 None gnomAD-3.1.2 3.29E-05
24416 94 T/I 126 rs768476881 0.3631 None gnomAD-4.0.0 1.05378E-05
24419 97 A/D 130 None 0.0802 None gnomAD-4.0.0 6.8436E-07
24419 97 A/P 130 rs1559419207 0.0802 None gnomAD-2.1.1 3.19E-05
24419 97 A/P 130 rs1559419207 0.0802 None gnomAD-4.0.0 4.10617E-06
24419 97 A/S 130 None 0.0802 None gnomAD-4.0.0 6.84362E-07
24419 97 A/T 130 rs1559419207 0.0802 None gnomAD-4.0.0 2.73745E-06
24419 97 A/V 130 None 0.0802 None gnomAD-4.0.0 6.8436E-07
24420 98 E/K 131 rs1265445775 0.4215 None gnomAD-3.1.2 1.31E-05
24420 98 E/K 131 rs1265445775 0.4215 None gnomAD-4.0.0 7.69014E-06
24421 99 D/E 132 None 0.6639 None gnomAD-4.0.0 1.59203E-06
24421 99 D/N 132 None 0.6639 None gnomAD-4.0.0 2.40064E-06