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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
15391 1 T/I 1 rs775807236 0.3779 None gnomAD-2.1.1 4.11E-06
15391 1 T/I 1 rs775807236 0.3779 None gnomAD-4.0.0 6.19711E-06
15391 1 T/R 1 None 0.3779 None gnomAD-4.0.0 1.37714E-06
15393 3 F/L 3 rs1301808455 0.2044 None gnomAD-2.1.1 1.25E-05
15393 3 F/L 3 rs1301808455 0.2044 None gnomAD-3.1.2 1.32E-05
15393 3 F/L 3 rs1301808455 0.2044 None gnomAD-4.0.0 6.51383E-06
15393 3 F/S 3 rs1157527811 0.2044 None gnomAD-3.1.2 1.32E-05
15393 3 F/S 3 rs1157527811 0.2044 None gnomAD-4.0.0 1.31664E-05
15395 5 E/G 5 None 0.3947 None gnomAD-4.0.0 6.91192E-07
15395 5 E/K 5 rs771991019 0.3947 None gnomAD-2.1.1 4.18E-06
15395 5 E/K 5 rs771991019 0.3947 None gnomAD-4.0.0 4.1461E-06
15396 6 H/P 7 None 0.5347 None gnomAD-4.0.0 1.20032E-06
15398 8 E/K 9 rs1405135300 0.8399 None gnomAD-3.1.2 6.58E-06
15398 8 E/K 9 rs1405135300 0.8399 None gnomAD-4.0.0 2.62404E-06
15398 8 E/V 9 rs978970349 0.8399 None gnomAD-2.1.1 4.23E-06
15398 8 E/V 9 rs978970349 0.8399 None gnomAD-4.0.0 1.47524E-05
15399 9 D/E 11 rs1332002805 0.4194 None gnomAD-2.1.1 4.28E-06
15399 9 D/E 11 rs1332002805 0.4194 None gnomAD-4.0.0 1.65094E-06
15399 9 D/G 11 None 0.4194 None gnomAD-4.0.0 1.64878E-06
15400 10 Q/H 13 rs745948750 0.2585 None gnomAD-2.1.1 4.31E-06
15400 10 Q/H 13 rs745948750 0.2585 None gnomAD-4.0.0 1.65636E-06
15400 10 Q/K 13 rs2154210935 0.2585 None gnomAD-4.0.0 1.39075E-06
15400 10 Q/L 13 None 0.2585 None gnomAD-4.0.0 4.80129E-06
15401 11 T/I 14 None 0.4632 None gnomAD-4.0.0 1.6578E-06
15401 11 T/R 14 rs2058077890 0.4632 None gnomAD-3.1.2 6.58E-06
15401 11 T/R 14 rs2058077890 0.4632 None gnomAD-4.0.0 2.64855E-06
15402 12 V/A 16 rs1559868004 0.1715 None gnomAD-2.1.1 4.38E-06
15402 12 V/A 16 rs1559868004 0.1715 None gnomAD-4.0.0 5.58645E-06
15402 12 V/I 16 None 0.1715 None gnomAD-4.0.0 3.32775E-06
15403 13 T/S 18 None 0.4659 None gnomAD-4.0.0 1.20032E-06
15404 14 E/G 23 rs878854311 0.2700 None gnomAD-4.0.0 1.68363E-06
15404 14 E/K 23 None 0.2700 None gnomAD-4.0.0 1.67923E-06
15405 15 F/L 24 rs779560487 0.4601 None gnomAD-3.1.2 6.58E-06
15405 15 F/L 24 rs779560487 0.4601 None gnomAD-4.0.0 6.58415E-06
15406 16 D/N 25 rs2058075487 0.4477 None gnomAD-4.0.0 2.8165E-06
15407 17 D/E 26 rs370808856 0.4804 None gnomAD-2.1.1 4.63E-06
15407 17 D/E 26 rs370808856 0.4804 None gnomAD-3.1.2 6.58E-06
15407 17 D/E 26 rs370808856 0.4804 None 1000 genomes 1.99681E-04
15407 17 D/E 26 rs370808856 0.4804 None gnomAD-4.0.0 1.27475E-06
15407 17 D/G 26 rs375445028 0.4804 None gnomAD-2.1.1 9.22E-06
15407 17 D/G 26 rs375445028 0.4804 None gnomAD-3.1.2 6.58E-06
15407 17 D/G 26 rs375445028 0.4804 None gnomAD-4.0.0 1.22081E-05
15408 18 A/D 28 rs537697585 0.1534 None gnomAD-2.1.1 4.68E-06
15408 18 A/D 28 rs537697585 0.1534 None gnomAD-3.1.2 6.58E-06
15408 18 A/D 28 rs537697585 0.1534 None 1000 genomes 1.99681E-04
15408 18 A/D 28 rs537697585 0.1534 None gnomAD-4.0.0 6.57756E-06
15408 18 A/S 28 rs730880239 0.1534 None gnomAD-3.1.2 6.58E-06
15408 18 A/T 28 rs730880239 0.1534 None gnomAD-2.1.1 1.59578E-04
15408 18 A/T 28 rs730880239 0.1534 None gnomAD-3.1.2 5.93E-05
15408 18 A/T 28 rs730880239 0.1534 None gnomAD-4.0.0 8.24287E-05
15408 18 A/V 28 None 0.1534 None gnomAD-4.0.0 3.53649E-06
15409 19 V/A 29 None 0.3814 None gnomAD-4.0.0 1.72961E-06
15409 19 V/I 29 rs2058073034 0.3814 None gnomAD-4.0.0 1.41639E-06
15410 20 F/L 30 rs1450114008 0.1160 None gnomAD-3.1.2 1.32E-05
15410 20 F/L 30 rs1450114008 0.1160 None gnomAD-4.0.0 1.31643E-05
15413 23 Q/R 34 rs878864622 0.2044 None gnomAD-4.0.0 2.14504E-06
15414 24 L/P 35 None 0.1397 None gnomAD-4.0.0 7.16396E-07
15416 26 R/T 40 None 0.6228 None gnomAD-4.0.0 2.15149E-06
15417 27 E/D 42 rs993637686 0.7524 None gnomAD-4.0.0 1.79013E-06
15419 29 A/S 44 rs761783891 0.2469 None gnomAD-2.1.1 1.04E-05
15419 29 A/S 44 rs761783891 0.2469 None gnomAD-4.0.0 7.19108E-07
15419 29 A/T 44 rs761783891 0.2469 None gnomAD-2.1.1 1.04E-05
15419 29 A/T 44 rs761783891 0.2469 None gnomAD-3.1.2 6.58E-06
15419 29 A/T 44 rs761783891 0.2469 None gnomAD-4.0.0 2.39872E-05
15420 30 N/D 45 rs2058069795 0.9374 None gnomAD-3.1.2 6.58E-06
15420 30 N/D 45 rs2058069795 0.9374 None gnomAD-4.0.0 2.82719E-06
15420 30 N/S 45 None 0.9374 None gnomAD-4.0.0 2.15934E-06
15421 31 V/I 46 rs1182471718 0.3260 None gnomAD-2.1.1 5.26E-06
15421 31 V/I 46 rs1182471718 0.3260 None gnomAD-4.0.0 1.79914E-06
15423 33 W/C 48 rs2058068284 0.1312 None gnomAD-3.1.2 6.58E-06
15424 34 Y/H 49 rs1221444659 0.1906 None gnomAD-3.1.2 6.58E-06
15426 36 N/Y 51 rs763751237 0.6150 None gnomAD-2.1.1 1.06E-05
15426 36 N/Y 51 rs763751237 0.6150 None gnomAD-4.0.0 5.76349E-06
15427 37 G/E 52 rs775511280 0.4127 None gnomAD-2.1.1 5.3E-06
15427 37 G/E 52 rs775511280 0.4127 None gnomAD-4.0.0 1.44321E-06
15427 37 G/R 52 rs760535484 0.4127 None gnomAD-2.1.1 1.83E-05
15427 37 G/R 52 rs760535484 0.4127 None gnomAD-3.1.2 1.97E-05
15427 37 G/R 52 rs760535484 0.4127 None gnomAD-4.0.0 9.7598E-06
15428 38 R/K 55 rs2058065577 0.8096 None gnomAD-4.0.0 1.20032E-06
15432 42 E/A 70 None 0.3986 None gnomAD-4.0.0 6.49868E-06
15432 42 E/D 70 None 0.3986 None gnomAD-4.0.0 1.20032E-06
15432 42 E/Q 70 rs1319118967 0.3986 None gnomAD-3.1.2 6.58E-06
15432 42 E/Q 70 rs1319118967 0.3986 None gnomAD-4.0.0 1.95325E-06
15432 42 E/V 70 rs1202126471 0.3986 None gnomAD-3.1.2 1.32E-05
15432 42 E/V 70 rs1202126471 0.3986 None gnomAD-4.0.0 1.31626E-05
15433 43 G/C 73 None 0.3827 None gnomAD-4.0.0 7.22964E-07
15433 43 G/D 73 rs1553715070 0.3827 None gnomAD-2.1.1 5.36E-06
15433 43 G/D 73 rs1553715070 0.3827 None gnomAD-4.0.0 1.81664E-06
15436 46 Y/C 121 None 0.2002 None gnomAD-4.0.0 1.60326E-06
15436 46 Y/H 121 rs748548136 0.2002 None gnomAD-2.1.1 4.09E-06
15436 46 Y/H 121 rs748548136 0.2002 None gnomAD-3.1.2 1.98E-05
15436 46 Y/H 121 rs748548136 0.2002 None gnomAD-4.0.0 5.59456E-06
15436 46 Y/N 121 rs748548136 0.2002 None gnomAD-2.1.1 4.09E-06
15436 46 Y/N 121 rs748548136 0.2002 None gnomAD-3.1.2 6.58E-06
15436 46 Y/N 121 rs748548136 0.2002 None gnomAD-4.0.0 3.10809E-06
15437 47 K/T 122 rs552087956 0.3904 None gnomAD-2.1.1 4.1E-06
15437 47 K/T 122 rs552087956 0.3904 None gnomAD-3.1.2 6.58E-06
15437 47 K/T 122 rs552087956 0.3904 None 1000 genomes 1.99681E-04
15437 47 K/T 122 rs552087956 0.3904 None gnomAD-4.0.0 6.57895E-06
15439 49 E/G 125 None 0.4144 None gnomAD-4.0.0 1.60193E-06
15439 49 E/K 125 None 0.4144 None gnomAD-4.0.0 1.37266E-06
15439 49 E/Q 125 rs758101152 0.4144 None gnomAD-2.1.1 4.11E-06
15439 49 E/Q 125 rs758101152 0.4144 None gnomAD-3.1.2 6.59E-06
15439 49 E/Q 125 rs758101152 0.4144 None gnomAD-4.0.0 1.24315E-06
15440 50 K/R 127 None 0.3423 None gnomAD-4.0.0 1.60166E-06
15442 52 G/A 131 rs749908018 0.2855 None gnomAD-2.1.1 8.18E-06
15442 52 G/A 131 rs749908018 0.2855 None gnomAD-3.1.2 6.59E-06
15442 52 G/A 131 rs749908018 0.2855 None gnomAD-4.0.0 3.10578E-06
15444 54 I/V 135 rs1333036641 0.2400 None gnomAD-2.1.1 4.07E-06
15444 54 I/V 135 rs1333036641 0.2400 None gnomAD-4.0.0 1.59876E-06
15445 55 H/R 136 None 0.1628 None gnomAD-4.0.0 1.59675E-06
15445 55 H/Y 136 rs1295193843 0.1628 None gnomAD-2.1.1 4.05E-06
15445 55 H/Y 136 rs1295193843 0.1628 None gnomAD-4.0.0 1.59686E-06
15447 57 L/F 138 None 0.0686 None gnomAD-4.0.0 1.59565E-06
15448 58 I/L 139 None 0.2086 None gnomAD-4.0.0 1.20032E-06
15451 61 D/Y 143 rs1576541228 0.4610 None gnomAD-4.0.0 4.10974E-06
15452 62 C/G 144 rs2058039119 0.0892 None gnomAD-4.0.0 1.36991E-06
15452 62 C/R 144 None 0.0892 None gnomAD-4.0.0 6.84955E-07
15452 62 C/S 144 rs2058039119 0.0892 None gnomAD-3.1.2 6.58E-06
15452 62 C/S 144 rs2058039119 0.0892 None gnomAD-4.0.0 6.58475E-06
15453 63 R/S 145 rs1553714751 0.1967 None gnomAD-4.0.0 6.84947E-07
15453 63 R/T 145 rs1325948079 0.1967 None gnomAD-2.1.1 4.05E-06
15453 63 R/T 145 rs1325948079 0.1967 None gnomAD-4.0.0 1.59522E-06
15455 65 D/N 148 rs370813526 0.7241 None gnomAD-2.1.1 5.67E-05
15455 65 D/N 148 rs370813526 0.7241 None gnomAD-3.1.2 4.61E-05
15455 65 D/N 148 rs370813526 0.7241 None gnomAD-4.0.0 9.11989E-05
15456 66 D/N 149 None 0.1909 None gnomAD-4.0.0 1.59515E-06
15457 67 E/D 151 rs764100235 0.4750 None gnomAD-2.1.1 4.05E-06
15457 67 E/D 151 rs764100235 0.4750 None gnomAD-3.1.2 6.59E-06
15457 67 E/D 151 rs764100235 0.4750 None gnomAD-4.0.0 1.86118E-06
15457 67 E/K 151 rs753664074 0.4750 None gnomAD-2.1.1 4.45E-05
15457 67 E/K 151 rs753664074 0.4750 None gnomAD-3.1.2 6.58E-06
15457 67 E/K 151 rs753664074 0.4750 None gnomAD-4.0.0 1.24077E-05
15458 68 C/R 152 rs2058036083 0.1144 None gnomAD-3.1.2 6.59E-06
15458 68 C/R 152 rs2058036083 0.1144 None gnomAD-4.0.0 6.58588E-06
15458 68 C/Y 152 rs377564388 0.1144 None gnomAD-2.1.1 2.16E-05
15458 68 C/Y 152 rs377564388 0.1144 None gnomAD-3.1.2 1.98E-05
15458 68 C/Y 152 rs377564388 0.1144 None gnomAD-4.0.0 5.64553E-05
15459 69 E/Q 153 rs752596345 0.3262 None gnomAD-2.1.1 4.05E-06
15459 69 E/Q 153 rs752596345 0.3262 None gnomAD-4.0.0 1.59515E-06
15462 72 C/W 156 None 0.0910 None gnomAD-4.0.0 6.84994E-07
15463 73 G/R 157 rs200042932 0.1383 None gnomAD-2.1.1 2.98514E-04
15463 73 G/R 157 rs200042932 0.1383 None gnomAD-3.1.2 2.63584E-04
15463 73 G/R 157 rs200042932 0.1383 None 1000 genomes 3.99361E-04
15463 73 G/R 157 rs200042932 0.1383 None gnomAD-4.0.0 2.73992E-06
15464 74 V/A 158 rs1191623943 0.1715 None gnomAD-2.1.1 8.11E-06
15464 74 V/A 158 rs1191623943 0.1715 None gnomAD-3.1.2 6.59E-06
15464 74 V/A 158 rs1191623943 0.1715 None gnomAD-4.0.0 7.70634E-06
15464 74 V/I 158 rs763137958 0.1715 None gnomAD-2.1.1 4.05E-06
15464 74 V/L 158 rs763137958 0.1715 None gnomAD-2.1.1 4.05E-06
15464 74 V/L 158 rs763137958 0.1715 None gnomAD-4.0.0 1.59548E-06
15465 75 E/G 159 rs773523242 0.6087 None gnomAD-2.1.1 4.06E-06
15465 75 E/G 159 rs773523242 0.6087 None gnomAD-4.0.0 1.59546E-06
15466 76 D/H 161 rs758950651 0.8122 None gnomAD-2.1.1 4.06E-06
15466 76 D/Y 161 None 0.8122 None gnomAD-4.0.0 2.40064E-06
15467 77 R/S 162 rs1467418331 0.3685 None gnomAD-2.1.1 1.62E-05
15467 77 R/S 162 rs1467418331 0.3685 None gnomAD-3.1.2 6.59E-06
15467 77 R/S 162 rs1467418331 0.3685 None gnomAD-4.0.0 4.3438E-06
15469 79 S/F 164 rs376373678 0.1083 None gnomAD-2.1.1 1.63E-05
15469 79 S/F 164 rs376373678 0.1083 None gnomAD-3.1.2 2.64E-05
15469 79 S/F 164 rs376373678 0.1083 None gnomAD-4.0.0 3.78731E-05
15470 80 R/C 165 rs373502448 0.5433 None gnomAD-2.1.1 8.16E-06
15470 80 R/C 165 rs373502448 0.5433 None gnomAD-4.0.0 1.44039E-05
15470 80 R/H 165 rs769044716 0.5433 None gnomAD-2.1.1 2.04E-05
15470 80 R/H 165 rs769044716 0.5433 None gnomAD-3.1.2 1.98E-05
15470 80 R/H 165 rs769044716 0.5433 None gnomAD-4.0.0 1.1177E-05
15471 81 A/T 166 None 0.0983 None gnomAD-4.0.0 1.20032E-06
15471 81 A/V 166 rs1268534567 0.0983 None gnomAD-2.1.1 4.08E-06
15471 81 A/V 166 rs1268534567 0.0983 None gnomAD-3.1.2 6.59E-06
15471 81 A/V 166 rs1268534567 0.0983 None gnomAD-4.0.0 2.57302E-06
15472 82 R/I 168 None 0.4687 None gnomAD-4.0.0 6.85722E-07
15472 82 R/T 168 rs2058028450 0.4687 None gnomAD-3.1.2 6.59E-06
15472 82 R/T 168 rs2058028450 0.4687 None gnomAD-4.0.0 5.58954E-06