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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
9493 1 P/R 1 None 0.1979 None gnomAD-4.0.0 4.79011E-06
9493 1 P/S 1 None 0.1979 None gnomAD-4.0.0 1.59664E-06
9493 1 P/T 1 rs778959524 0.1979 None gnomAD-2.1.1 4.03E-06
9493 1 P/T 1 rs778959524 0.1979 None gnomAD-4.0.0 3.1933E-06
9494 2 S/C 2 rs1553886767 0.3539 None gnomAD-4.0.0 1.20032E-06
9494 2 S/N 2 None 0.3539 None gnomAD-4.0.0 1.59582E-06
9495 3 F/L 3 None 0.2301 None gnomAD-4.0.0 1.59569E-06
9496 4 T/N 4 None 0.4928 None gnomAD-4.0.0 6.84967E-07
9496 4 T/P 4 rs1397154421 0.4928 None gnomAD-2.1.1 4.02E-06
9496 4 T/P 4 rs1397154421 0.4928 None gnomAD-4.0.0 4.79488E-06
9496 4 T/S 4 None 0.4928 None gnomAD-4.0.0 6.84967E-07
9498 6 R/G 7 rs757471312 0.7942 None gnomAD-2.1.1 8.05E-06
9498 6 R/G 7 rs757471312 0.7942 None gnomAD-4.0.0 3.18919E-06
9499 7 L/F 8 rs1060500573 0.2076 None gnomAD-3.1.2 6.57E-06
9499 7 L/F 8 rs1060500573 0.2076 None gnomAD-4.0.0 3.10111E-06
9499 7 L/P 8 None 0.2076 None gnomAD-4.0.0 1.20032E-06
9501 9 E/D 11 None 0.9166 None gnomAD-4.0.0 6.84502E-07
9502 10 T/A 12 rs368162634 0.4488 None gnomAD-3.1.2 6.57E-06
9502 10 T/A 12 rs368162634 0.4488 None gnomAD-4.0.0 3.0996E-06
9503 11 V/A 13 None 0.3099 None gnomAD-4.0.0 1.20032E-06
9503 11 V/I 13 rs202160275 0.3099 None gnomAD-2.1.1 3.42705E-04
9503 11 V/I 13 rs202160275 0.3099 None gnomAD-3.1.2 2.7604E-04
9503 11 V/I 13 rs202160275 0.3099 None gnomAD-4.0.0 2.38629E-04
9504 12 E/G 14 None 0.5271 None gnomAD-4.0.0 1.59189E-06
9507 15 E/Q 23 None 0.3812 None gnomAD-4.0.0 2.05297E-06
9510 18 S/T 26 rs2076392914 0.4757 None gnomAD-3.1.2 6.57E-06
9510 18 S/T 26 rs2076392914 0.4757 None gnomAD-4.0.0 6.56996E-06
9510 18 S/Y 26 rs753125248 0.4757 None gnomAD-2.1.1 8.03E-06
9510 18 S/Y 26 rs753125248 0.4757 None gnomAD-4.0.0 1.16329E-05
9511 19 F/L 28 None 0.1797 None gnomAD-4.0.0 1.59145E-06
9512 20 K/E 29 None 0.3879 None gnomAD-4.0.0 1.20032E-06
9513 21 L/F 30 rs143420988 0.1424 None gnomAD-3.1.2 6.57E-06
9513 21 L/F 30 rs143420988 0.1424 None 1000 genomes 1.99681E-04
9513 21 L/F 30 rs143420988 0.1424 None gnomAD-4.0.0 6.56616E-06
9516 24 R/C 34 rs751958797 0.5334 None gnomAD-2.1.1 2.85E-05
9516 24 R/C 34 rs751958797 0.5334 None gnomAD-3.1.2 1.31E-05
9516 24 R/C 34 rs751958797 0.5334 None gnomAD-4.0.0 2.72679E-05
9516 24 R/H 34 rs374156904 0.5334 None gnomAD-2.1.1 3.99395E-04
9516 24 R/H 34 rs374156904 0.5334 None gnomAD-3.1.2 2.23449E-04
9516 24 R/H 34 rs374156904 0.5334 None 1000 genomes 1.19808E-03
9516 24 R/H 34 rs374156904 0.5334 None gnomAD-4.0.0 2.54062E-04
9517 25 V/A 35 None 0.1402 None gnomAD-4.0.0 2.40065E-06
9517 25 V/M 35 None 0.1402 None gnomAD-4.0.0 1.20032E-06
9518 26 A/S 38 None 0.3820 None gnomAD-4.0.0 1.59125E-06
9519 27 G/C 40 None 0.2964 None gnomAD-4.0.0 1.59123E-06
9519 27 G/D 40 rs1166241741 0.2964 None gnomAD-4.0.0 1.59123E-06
9521 29 Q/E 42 None 0.4698 None gnomAD-4.0.0 6.842E-07
9521 29 Q/L 42 None 0.4698 None gnomAD-4.0.0 1.59113E-06
9521 29 Q/P 42 rs760280055 0.4698 None gnomAD-2.1.1 7.13E-06
9521 29 Q/P 42 rs760280055 0.4698 None gnomAD-3.1.2 6.57E-06
9521 29 Q/P 42 rs760280055 0.4698 None gnomAD-4.0.0 6.57117E-06
9522 30 P/L 43 None 0.6823 None gnomAD-4.0.0 6.8419E-07
9522 30 P/R 43 None 0.6823 None gnomAD-4.0.0 2.05257E-06
9522 30 P/S 43 None 0.6823 None gnomAD-4.0.0 6.84194E-07
9522 30 P/T 43 None 0.6823 None gnomAD-4.0.0 6.84195E-07
9523 31 I/L 44 rs775239068 0.1469 None gnomAD-2.1.1 4.01E-06
9523 31 I/T 44 rs2076388321 0.1469 None gnomAD-3.1.2 6.57E-06
9523 31 I/T 44 rs2076388321 0.1469 None gnomAD-4.0.0 6.40462E-06
9523 31 I/V 44 rs775239068 0.1469 None gnomAD-4.0.0 1.59108E-06
9527 35 W/G 48 None 0.1359 None gnomAD-4.0.0 1.59106E-06
9528 36 Y/H 49 None 0.2039 None gnomAD-4.0.0 1.20032E-06
9529 37 K/N 50 rs876658049 0.1684 None gnomAD-4.0.0 2.40064E-06
9531 39 N/T 52 rs537464608 0.8825 None gnomAD-3.1.2 6.57E-06
9531 39 N/T 52 rs537464608 0.8825 None gnomAD-4.0.0 2.56183E-06
9532 40 I/M 55 rs749485243 0.7640 None gnomAD-2.1.1 4.01E-06
9532 40 I/M 55 rs749485243 0.7640 None gnomAD-4.0.0 6.84176E-07
9532 40 I/T 55 None 0.7640 None gnomAD-4.0.0 2.05252E-06
9532 40 I/V 55 rs770782767 0.7640 None gnomAD-2.1.1 2.85E-05
9532 40 I/V 55 rs770782767 0.7640 None gnomAD-3.1.2 1.97E-05
9532 40 I/V 55 rs770782767 0.7640 None gnomAD-4.0.0 4.70932E-05
9534 42 I/L 58 rs1364084001 0.1774 None gnomAD-3.1.2 6.57E-06
9534 42 I/L 58 rs1364084001 0.1774 None gnomAD-4.0.0 6.57151E-06
9534 42 I/M 58 None 0.1774 None gnomAD-4.0.0 6.84169E-07
9534 42 I/T 58 rs1420735083 0.1774 None gnomAD-2.1.1 4.01E-06
9534 42 I/T 58 rs1420735083 0.1774 None gnomAD-4.0.0 1.59106E-06
9534 42 I/V 58 None 0.1774 None gnomAD-4.0.0 1.20032E-06
9535 43 Q/K 59 rs778021049 0.5590 None gnomAD-2.1.1 1.2E-05
9535 43 Q/K 59 rs778021049 0.5590 None gnomAD-4.0.0 2.73669E-06
9536 44 P/L 70 None 0.5375 None gnomAD-4.0.0 2.40064E-06
9536 44 P/T 70 rs201121983 0.5375 None gnomAD-2.1.1 2.01E-05
9536 44 P/T 70 rs201121983 0.5375 None gnomAD-3.1.2 3.94E-05
9536 44 P/T 70 rs201121983 0.5375 None 1000 genomes 5.99042E-04
9536 44 P/T 70 rs201121983 0.5375 None gnomAD-4.0.0 3.96552E-05
9537 45 T/I 73 None 0.4463 None gnomAD-4.0.0 2.40064E-06
9538 46 S/C 102 None 0.8377 None gnomAD-4.0.0 1.59107E-06
9538 46 S/P 102 None 0.8377 None gnomAD-4.0.0 1.20032E-06
9540 48 C/W 121 None 0.1615 None gnomAD-4.0.0 1.20032E-06
9540 48 C/Y 121 rs1427971848 0.1615 None gnomAD-4.0.0 2.40064E-06
9541 49 E/K 122 rs2076382239 0.5155 None gnomAD-4.0.0 1.5911E-06
9542 50 I/V 123 rs1474085210 0.2425 None gnomAD-2.1.1 1.61E-05
9542 50 I/V 123 rs1474085210 0.2425 None gnomAD-3.1.2 3.94E-05
9542 50 I/V 123 rs1474085210 0.2425 None gnomAD-4.0.0 9.91435E-06
9543 51 T/I 125 rs752853962 0.4482 None gnomAD-2.1.1 8.03E-06
9543 51 T/I 125 rs752853962 0.4482 None gnomAD-4.0.0 4.10506E-06
9546 54 N/K 131 None 0.9752 None gnomAD-4.0.0 2.40064E-06
9546 54 N/S 131 None 0.9752 None gnomAD-4.0.0 1.59105E-06
9546 54 N/Y 131 None 0.9752 None gnomAD-4.0.0 4.80129E-06
9547 55 N/K 134 rs727505185 0.4780 None gnomAD-2.1.1 4.01E-06
9547 55 N/K 134 rs727505185 0.4780 None gnomAD-4.0.0 1.59109E-06
9548 56 T/K 135 rs752064053 0.2169 None gnomAD-2.1.1 1.2E-05
9548 56 T/K 135 rs752064053 0.2169 None gnomAD-4.0.0 1.29993E-05
9548 56 T/M 135 rs752064053 0.2169 None gnomAD-2.1.1 2.85E-05
9548 56 T/M 135 rs752064053 0.2169 None gnomAD-3.1.2 2.63E-05
9548 56 T/M 135 rs752064053 0.2169 None gnomAD-4.0.0 9.29502E-06
9549 57 L/S 136 rs763448983 0.1062 None gnomAD-2.1.1 4.01E-06
9549 57 L/S 136 rs763448983 0.1062 None gnomAD-4.0.0 1.59108E-06
9549 57 L/V 136 None 0.1062 None gnomAD-4.0.0 4.80129E-06
9550 58 V/L 137 rs879094573 0.1727 None gnomAD-2.1.1 4.01E-06
9550 58 V/L 137 rs879094573 0.1727 None gnomAD-4.0.0 2.05252E-06
9550 58 V/M 137 rs879094573 0.1727 None gnomAD-3.1.2 6.57E-06
9550 58 V/M 137 rs879094573 0.1727 None gnomAD-4.0.0 6.19653E-06
9551 59 L/P 138 None 0.0856 None gnomAD-4.0.0 1.20032E-06
9553 61 V/I 140 rs763879363 0.1006 None gnomAD-4.0.0 2.7367E-06
9555 63 K/T 143 rs760060633 0.7172 None gnomAD-2.1.1 4.01E-06
9555 63 K/T 143 rs760060633 0.7172 None gnomAD-4.0.0 1.59112E-06
9556 64 A/G 144 rs1060500482 0.1148 None gnomAD-2.1.1 4.01E-06
9556 64 A/G 144 rs1060500482 0.1148 None gnomAD-4.0.0 6.84186E-07
9556 64 A/T 144 rs1381808931 0.1148 None gnomAD-2.1.1 4.01E-06
9556 64 A/T 144 rs1381808931 0.1148 None gnomAD-4.0.0 1.36836E-06
9556 64 A/V 144 rs1060500482 0.1148 None gnomAD-2.1.1 4.01E-06
9556 64 A/V 144 rs1060500482 0.1148 None gnomAD-4.0.0 5.47349E-06
9557 65 G/D 145 None 0.1791 None gnomAD-4.0.0 1.20032E-06
9557 65 G/R 145 rs1560553033 0.1791 None gnomAD-2.1.1 4.01E-06
9557 65 G/R 145 rs1560553033 0.1791 None gnomAD-4.0.0 3.42091E-06
9558 66 M/I 146 rs868771235 0.3306 None gnomAD-4.0.0 1.20032E-06
9558 66 M/V 146 None 0.3306 None gnomAD-4.0.0 1.59111E-06
9559 67 N/D 148 None 0.9099 None gnomAD-4.0.0 1.5911E-06
9559 67 N/K 148 None 0.9099 None gnomAD-4.0.0 6.84181E-07
9560 68 D/E 149 rs377713076 0.2171 None gnomAD-2.1.1 4.01E-06
9560 68 D/E 149 rs377713076 0.2171 None gnomAD-4.0.0 6.84179E-07
9560 68 D/H 149 rs771843862 0.2171 None gnomAD-2.1.1 6.37E-05
9560 68 D/H 149 rs771843862 0.2171 None gnomAD-3.1.2 1.31E-05
9560 68 D/H 149 rs771843862 0.2171 None gnomAD-4.0.0 1.85897E-06
9560 68 D/N 149 rs771843862 0.2171 None gnomAD-2.1.1 1.3648E-04
9560 68 D/N 149 rs771843862 0.2171 None gnomAD-3.1.2 1.31E-05
9560 68 D/N 149 rs771843862 0.2171 None gnomAD-4.0.0 7.62176E-05
9561 69 A/T 151 rs373380202 0.2355 None gnomAD-2.1.1 3.57E-05
9561 69 A/T 151 rs373380202 0.2355 None gnomAD-3.1.2 1.11697E-04
9561 69 A/T 151 rs373380202 0.2355 None 1000 genomes 1.99681E-04
9561 69 A/T 151 rs373380202 0.2355 None gnomAD-4.0.0 2.23061E-05
9562 70 G/S 152 rs1445369813 0.2331 None gnomAD-4.0.0 1.20032E-06
9563 71 L/S 153 None 0.5386 None gnomAD-4.0.0 6.84185E-07
9563 71 L/W 153 rs770692880 0.5386 None gnomAD-2.1.1 3.21E-05
9563 71 L/W 153 rs770692880 0.5386 None gnomAD-3.1.2 1.31E-05
9563 71 L/W 153 rs770692880 0.5386 None gnomAD-4.0.0 3.71786E-06
9564 72 Y/C 154 rs2076368966 0.1161 None gnomAD-3.1.2 6.57E-06
9564 72 Y/C 154 rs2076368966 0.1161 None gnomAD-4.0.0 6.5684E-06
9565 73 T/I 155 rs1423863240 0.1857 None gnomAD-2.1.1 6.37E-05
9565 73 T/I 155 rs1423863240 0.1857 None gnomAD-3.1.2 1.97E-05
9565 73 T/I 155 rs1423863240 0.1857 None gnomAD-4.0.0 3.71794E-06
9565 73 T/S 155 rs368995369 0.1857 None gnomAD-2.1.1 4.02E-06
9565 73 T/S 155 rs368995369 0.1857 None gnomAD-3.1.2 1.31E-05
9565 73 T/S 155 rs368995369 0.1857 None gnomAD-4.0.0 3.84266E-06
9566 74 C/R 156 None 0.0644 None gnomAD-4.0.0 6.15772E-06
9566 74 C/S 156 None 0.0644 None gnomAD-4.0.0 6.84191E-07
9567 75 K/N 157 rs2076366428 0.3356 None gnomAD-4.0.0 3.42098E-06
9567 75 K/T 157 rs770062038 0.3356 None gnomAD-2.1.1 4.02E-06
9568 76 V/A 158 None 0.1096 None gnomAD-4.0.0 1.59133E-06
9568 76 V/L 158 rs1187950337 0.1096 None gnomAD-2.1.1 4.02E-06
9568 76 V/L 158 rs1187950337 0.1096 None gnomAD-4.0.0 1.59121E-06
9570 78 N/D 161 rs748118078 0.1515 None gnomAD-2.1.1 4.02E-06
9570 78 N/D 161 rs748118078 0.1515 None gnomAD-4.0.0 1.59131E-06
9570 78 N/S 161 rs727503641 0.1515 None gnomAD-2.1.1 8.04E-06
9570 78 N/S 161 rs727503641 0.1515 None gnomAD-3.1.2 1.31E-05
9570 78 N/S 161 rs727503641 0.1515 None gnomAD-4.0.0 1.30131E-05
9572 80 A/S 163 rs2076363568 0.4368 None gnomAD-4.0.0 6.84279E-07
9572 80 A/V 163 None 0.4368 None gnomAD-4.0.0 1.59165E-06
9574 82 S/C 165 rs376276989 0.5502 None gnomAD-2.1.1 4.02E-06
9574 82 S/C 165 rs376276989 0.5502 None gnomAD-3.1.2 6.57E-06
9574 82 S/C 165 rs376276989 0.5502 None gnomAD-4.0.0 2.02972E-06
9574 82 S/F 165 rs376276989 0.5502 None gnomAD-4.0.0 2.40064E-06
9576 84 L/P 168 None 0.5845 None gnomAD-4.0.0 6.84753E-07
9576 84 L/V 168 rs780753483 0.5845 None gnomAD-2.1.1 1.21E-05
9576 84 L/V 168 rs780753483 0.5845 None gnomAD-4.0.0 4.77628E-06
9577 85 C/G 169 rs1476712853 0.1285 None gnomAD-2.1.1 3.18E-05
9577 85 C/G 169 rs1476712853 0.1285 None gnomAD-3.1.2 6.57E-06
9577 85 C/G 169 rs1476712853 0.1285 None gnomAD-4.0.0 2.02974E-06
9578 86 T/A 171 rs1370314453 0.3323 None gnomAD-2.1.1 4.03E-06
9578 86 T/A 171 rs1370314453 0.3323 None gnomAD-4.0.0 1.59847E-06
9578 86 T/K 171 None 0.3323 None gnomAD-4.0.0 6.85554E-07
9578 86 T/M 171 rs184923756 0.3323 None gnomAD-2.1.1 1.53731E-04
9578 86 T/M 171 rs184923756 0.3323 None gnomAD-3.1.2 2.62826E-04
9578 86 T/M 171 rs184923756 0.3323 None 1000 genomes 1.99681E-04
9578 86 T/M 171 rs184923756 0.3323 None gnomAD-4.0.0 1.85601E-04
9579 87 S/P 172 None 0.1151 None gnomAD-4.0.0 1.20032E-06
9580 88 S/L 173 rs375212459 0.3031 None gnomAD-2.1.1 4.03E-06
9580 88 S/L 173 rs375212459 0.3031 None gnomAD-4.0.0 1.61279E-06
9581 89 I/T 174 None 0.0828 None gnomAD-4.0.0 1.61211E-06
9581 89 I/V 174 rs371826762 0.0828 None gnomAD-2.1.1 1.64695E-04
9581 89 I/V 174 rs371826762 0.0828 None gnomAD-3.1.2 1.77342E-04
9581 89 I/V 174 rs371826762 0.0828 None gnomAD-4.0.0 1.79959E-04
9582 90 V/F 175 rs537805395 0.3617 None gnomAD-3.1.2 6.57E-06
9582 90 V/F 175 rs537805395 0.3617 None 1000 genomes 1.99681E-04
9582 90 V/F 175 rs537805395 0.3617 None gnomAD-4.0.0 6.56806E-06
9582 90 V/I 175 rs537805395 0.3617 None gnomAD-2.1.1 1.62E-05
9582 90 V/I 175 rs537805395 0.3617 None gnomAD-4.0.0 1.58394E-05
9583 91 I/F 177 None 0.1383 None gnomAD-4.0.0 6.89341E-07
9583 91 I/L 177 None 0.1383 None gnomAD-4.0.0 6.89341E-07
9583 91 I/M 177 rs1219437440 0.1383 None gnomAD-2.1.1 3.18E-05
9583 91 I/M 177 rs1219437440 0.1383 None gnomAD-3.1.2 6.57E-06
9583 91 I/M 177 rs1219437440 0.1383 None gnomAD-4.0.0 6.56953E-06