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

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
19391 1 D/N 1 rs377633051 0.5480 None gnomAD-2.1.1 4.66E-05
19391 1 D/N 1 rs377633051 0.5480 None gnomAD-3.1.2 9.21E-05
19391 1 D/N 1 rs377633051 0.5480 None gnomAD-4.0.0 1.55E-05
19391 1 D/Y 1 None 0.5480 None gnomAD-4.0.0 6.84507E-07
19393 3 R/G 8 None 0.8680 None gnomAD-4.0.0 4.80129E-06
19395 5 K/E 11 None 0.5845 None gnomAD-4.0.0 1.20032E-06
19395 5 K/N 11 None 0.5845 None gnomAD-4.0.0 6.84404E-07
19395 5 K/R 11 None 0.5845 None gnomAD-4.0.0 7.52852E-06
19395 5 K/T 11 rs1200343273 0.5845 None gnomAD-2.1.1 1.21E-05
19395 5 K/T 11 rs1200343273 0.5845 None gnomAD-4.0.0 2.05323E-06
19396 6 L/F 13 rs1277629300 0.3594 None gnomAD-2.1.1 8.07E-06
19396 6 L/F 13 rs1277629300 0.3594 None gnomAD-4.0.0 1.36879E-06
19396 6 L/P 13 rs1217157718 0.3594 None gnomAD-2.1.1 4.03E-06
19396 6 L/P 13 rs1217157718 0.3594 None gnomAD-4.0.0 2.7376E-06
19397 7 T/M 14 rs373527448 0.4564 None gnomAD-2.1.1 8.23E-05
19397 7 T/M 14 rs373527448 0.4564 None gnomAD-3.1.2 1.381E-04
19397 7 T/M 14 rs373527448 0.4564 None 1000 genomes 1.99681E-04
19397 7 T/M 14 rs373527448 0.4564 None gnomAD-4.0.0 3.96696E-05
19397 7 T/P 14 None 0.4564 None gnomAD-4.0.0 2.0417E-05
19398 8 I/V 16 rs375724247 0.1136 None gnomAD-3.1.2 6.58E-06
19398 8 I/V 16 rs375724247 0.1136 None gnomAD-4.0.0 3.04509E-06
19399 9 R/P 18 None 0.7040 None gnomAD-4.0.0 2.05321E-06
19399 9 R/Q 18 rs759893392 0.7040 None gnomAD-2.1.1 4.03E-05
19399 9 R/Q 18 rs759893392 0.7040 None gnomAD-3.1.2 6.58E-06
19399 9 R/Q 18 rs759893392 0.7040 None gnomAD-4.0.0 3.84336E-05
19400 10 V/A 23 None 0.4336 None gnomAD-4.0.0 4.10641E-06
19400 10 V/G 23 rs774737543 0.4336 None gnomAD-2.1.1 4.03E-06
19400 10 V/G 23 rs774737543 0.4336 None gnomAD-4.0.0 4.79081E-06
19401 11 G/S 24 rs764852395 0.2883 None gnomAD-2.1.1 1.61E-05
19401 11 G/S 24 rs764852395 0.2883 None gnomAD-4.0.0 7.9614E-06
19401 11 G/V 24 None 0.2883 None gnomAD-4.0.0 1.20032E-06
19403 13 A/G 26 rs573503792 0.3880 None gnomAD-2.1.1 2.15E-05
19403 13 A/G 26 rs573503792 0.3880 None gnomAD-3.1.2 5.92E-05
19403 13 A/G 26 rs573503792 0.3880 None 1000 genomes 1.99681E-04
19403 13 A/G 26 rs573503792 0.3880 None gnomAD-4.0.0 1.05371E-05
19403 13 A/P 26 rs545185154 0.3880 None gnomAD-2.1.1 2.02E-05
19403 13 A/P 26 rs545185154 0.3880 None gnomAD-3.1.2 3.29E-05
19403 13 A/P 26 rs545185154 0.3880 None 1000 genomes 1.99681E-04
19403 13 A/P 26 rs545185154 0.3880 None gnomAD-4.0.0 8.30571E-05
19403 13 A/V 26 None 0.3880 None gnomAD-4.0.0 1.36878E-06
19404 14 F/S 28 None 0.1857 None gnomAD-4.0.0 4.80129E-06
19405 15 A/D 29 None 0.3245 None gnomAD-4.0.0 2.05319E-06
19405 15 A/T 29 None 0.3245 None gnomAD-4.0.0 6.36894E-06
19405 15 A/V 29 None 0.3245 None gnomAD-4.0.0 6.84398E-07
19406 16 L/F 30 None 0.0943 None gnomAD-4.0.0 1.59225E-06
19407 17 T/I 31 None 0.3188 None gnomAD-4.0.0 1.59219E-06
19409 19 R/C 34 rs553606996 0.6316 None gnomAD-3.1.2 6.58E-06
19409 19 R/C 34 rs553606996 0.6316 None 1000 genomes 1.99681E-04
19409 19 R/C 34 rs553606996 0.6316 None gnomAD-4.0.0 5.57866E-06
19409 19 R/H 34 rs201505306 0.6316 None gnomAD-2.1.1 2.71978E-04
19409 19 R/H 34 rs201505306 0.6316 None gnomAD-3.1.2 6.90571E-04
19409 19 R/H 34 rs201505306 0.6316 None gnomAD-4.0.0 1.32655E-04
19412 22 G/D 40 rs998581111 0.1648 None gnomAD-4.0.0 3.42195E-06
19412 22 G/S 40 None 0.1648 None gnomAD-4.0.0 2.05316E-06
19414 24 P/Q 42 rs878901352 0.4577 None gnomAD-2.1.1 1.79E-05
19414 24 P/Q 42 rs878901352 0.4577 None gnomAD-3.1.2 3.95E-05
19414 24 P/Q 42 rs878901352 0.4577 None gnomAD-4.0.0 8.67809E-06
19414 24 P/S 42 None 0.4577 None gnomAD-4.0.0 6.84377E-07
19414 24 P/T 42 None 0.4577 None gnomAD-4.0.0 1.36875E-06
19416 26 P/R 44 rs1338893227 0.1066 None gnomAD-2.1.1 3.19E-05
19417 27 K/T 45 rs2050890931 0.5592 None gnomAD-4.0.0 1.5921E-06
19418 28 V/A 46 rs1236311809 0.2279 None gnomAD-4.0.0 4.77625E-06
19418 28 V/G 46 rs1236311809 0.2279 None gnomAD-2.1.1 6.38E-05
19418 28 V/G 46 rs1236311809 0.2279 None gnomAD-3.1.2 1.32E-05
19418 28 V/G 46 rs1236311809 0.2279 None gnomAD-4.0.0 3.84536E-06
19418 28 V/I 46 rs2050889894 0.2279 None gnomAD-4.0.0 6.84362E-07
19418 28 V/L 46 None 0.2279 None gnomAD-4.0.0 6.84362E-07
19421 31 F/S 49 None 0.2389 None gnomAD-4.0.0 3.18394E-06
19422 32 K/R 50 None 0.1499 None gnomAD-4.0.0 1.59194E-06
19425 35 A/D 55 None 0.3699 None gnomAD-2.1.1 1.61E-05
19425 35 A/D 55 None 0.3699 None gnomAD-3.1.2 6.58E-06
19425 35 A/D 55 None 0.3699 None gnomAD-4.0.0 7.43805E-06
19425 35 A/G 55 rs727504525 0.3699 None gnomAD-4.0.0 8.21209E-06
19425 35 A/V 55 rs727504525 0.3699 None gnomAD-2.1.1 1.21E-05
19425 35 A/V 55 rs727504525 0.3699 None gnomAD-3.1.2 1.97E-05
19425 35 A/V 55 rs727504525 0.3699 None gnomAD-4.0.0 4.9587E-06
19426 36 D/H 56 rs1408473678 0.6473 None gnomAD-3.1.2 6.58E-06
19426 36 D/H 56 rs1408473678 0.6473 None gnomAD-4.0.0 6.57549E-06
19427 37 V/M 58 None 0.2243 None gnomAD-4.0.0 1.20032E-06
19429 39 E/Q 70 None 0.4851 None gnomAD-4.0.0 1.59204E-06
19430 40 D/N 73 None 0.3278 None gnomAD-4.0.0 1.59201E-06
19431 41 D/H 102 rs1236754057 1.0584 None gnomAD-2.1.1 4.03E-06
19431 41 D/V 102 rs772172264 1.0584 None gnomAD-4.0.0 1.59201E-06
19431 41 D/Y 102 rs1236754057 1.0584 None gnomAD-3.1.2 6.58E-06
19431 41 D/Y 102 rs1236754057 1.0584 None gnomAD-4.0.0 4.95884E-06
19432 42 R/C 115 rs1345945391 0.1971 None gnomAD-2.1.1 3.19E-05
19432 42 R/C 115 rs1345945391 0.1971 None gnomAD-3.1.2 6.58E-06
19432 42 R/C 115 rs1345945391 0.1971 None gnomAD-4.0.0 3.71919E-06
19432 42 R/H 115 rs745631866 0.1971 None gnomAD-2.1.1 2.82E-05
19432 42 R/H 115 rs745631866 0.1971 None gnomAD-3.1.2 1.97E-05
19432 42 R/H 115 rs745631866 0.1971 None gnomAD-4.0.0 1.48771E-05
19433 43 T/A 121 None 0.1268 None gnomAD-4.0.0 2.05301E-06
19434 44 H/D 122 rs770789921 0.4584 None gnomAD-2.1.1 4.03E-06
19434 44 H/D 122 rs770789921 0.4584 None gnomAD-4.0.0 4.77572E-06
19435 45 I/L 123 None 0.2335 None gnomAD-4.0.0 6.84325E-07
19435 45 I/M 123 None 0.2335 None gnomAD-4.0.0 1.59189E-06
19435 45 I/T 123 rs935570365 0.2335 None gnomAD-4.0.0 1.20032E-06
19435 45 I/V 123 rs749402480 0.2335 None gnomAD-2.1.1 4.03E-06
19435 45 I/V 123 rs749402480 0.2335 None gnomAD-4.0.0 2.7373E-06
19437 47 T/A 127 rs778067188 0.4251 None gnomAD-2.1.1 1.07E-05
19437 47 T/A 127 rs778067188 0.4251 None gnomAD-3.1.2 1.97E-05
19437 47 T/A 127 rs778067188 0.4251 None gnomAD-4.0.0 3.71902E-05
19438 48 T/I 130 rs182907667 0.3435 None gnomAD-3.1.2 6.58E-06
19438 48 T/I 130 rs182907667 0.3435 None gnomAD-4.0.0 6.57212E-06
19439 49 P/A 131 rs368847168 0.6577 None gnomAD-2.1.1 4.03E-06
19439 49 P/A 131 rs368847168 0.6577 None gnomAD-3.1.2 6.58E-06
19439 49 P/A 131 rs368847168 0.6577 None gnomAD-4.0.0 6.57869E-06
19439 49 P/L 131 None 0.6577 None gnomAD-4.0.0 4.80129E-06
19439 49 P/S 131 rs368847168 0.6577 None gnomAD-2.1.1 1.07E-05
19439 49 P/S 131 rs368847168 0.6577 None gnomAD-3.1.2 6.58E-06
19439 49 P/S 131 rs368847168 0.6577 None gnomAD-4.0.0 4.33893E-06
19439 49 P/T 131 None 0.6577 None gnomAD-2.1.1 3.19E-05
19439 49 P/T 131 None 0.6577 None gnomAD-3.1.2 6.58E-06
19439 49 P/T 131 None 0.6577 None gnomAD-4.0.0 6.57869E-06
19440 50 A/V 134 rs781642072 0.3232 None gnomAD-2.1.1 4.03E-06
19440 50 A/V 134 rs781642072 0.3232 None gnomAD-4.0.0 1.59185E-06
19441 51 T/A 135 None 0.3352 None gnomAD-4.0.0 1.59185E-06
19442 52 L/P 136 rs755527935 0.1050 None gnomAD-2.1.1 4.03E-06
19442 52 L/P 136 rs755527935 0.1050 None gnomAD-4.0.0 1.59185E-06
19442 52 L/R 136 None 0.1050 None gnomAD-4.0.0 1.59185E-06
19443 53 A/S 137 None 0.1563 None gnomAD-4.0.0 1.20032E-06
19443 53 A/T 137 None 0.1563 None gnomAD-4.0.0 1.20032E-06
19443 53 A/V 137 rs1360001030 0.1563 None gnomAD-2.1.1 4.03E-06
19443 53 A/V 137 rs1360001030 0.1563 None gnomAD-4.0.0 1.59184E-06
19444 54 L/S 138 rs1239800877 0.1025 None gnomAD-3.1.2 6.58E-06
19444 54 L/S 138 rs1239800877 0.1025 None gnomAD-4.0.0 6.57618E-06
19445 55 E/K 139 rs1418076473 0.3558 None gnomAD-2.1.1 4.03E-06
19445 55 E/K 139 rs1418076473 0.3558 None gnomAD-4.0.0 4.79018E-06
19446 56 K/E 140 None 0.1173 None gnomAD-4.0.0 1.20032E-06
19446 56 K/N 140 rs536286313 0.1173 None gnomAD-2.1.1 4.03E-06
19446 56 K/N 140 rs536286313 0.1173 None gnomAD-3.1.2 6.58E-06
19446 56 K/N 140 rs536286313 0.1173 None 1000 genomes 1.99681E-04
19446 56 K/N 140 rs536286313 0.1173 None gnomAD-4.0.0 6.57022E-06
19447 57 I/M 141 rs1159324065 0.5113 None gnomAD-2.1.1 4.03E-06
19447 57 I/M 141 rs1159324065 0.5113 None gnomAD-4.0.0 1.59179E-06
19447 57 I/T 141 None 0.5113 None gnomAD-4.0.0 1.59178E-06
19448 58 K/E 143 rs900082928 0.7477 None gnomAD-2.1.1 4.03E-06
19448 58 K/E 143 rs900082928 0.7477 None gnomAD-3.1.2 1.97E-05
19448 58 K/E 143 rs900082928 0.7477 None gnomAD-4.0.0 5.57817E-06
19448 58 K/R 143 rs2050867556 0.7477 None gnomAD-3.1.2 6.57E-06
19448 58 K/R 143 rs2050867556 0.7477 None gnomAD-4.0.0 1.85939E-06
19449 59 A/D 144 rs1179903616 0.0896 None gnomAD-2.1.1 4.02E-06
19449 59 A/D 144 rs1179903616 0.0896 None gnomAD-4.0.0 1.59179E-06
19449 59 A/P 144 None 0.0896 None gnomAD-4.0.0 6.84305E-07
19449 59 A/S 144 rs753417375 0.0896 None gnomAD-2.1.1 1.07E-05
19449 59 A/S 144 rs753417375 0.0896 None gnomAD-3.1.2 6.58E-06
19449 59 A/S 144 rs753417375 0.0896 None gnomAD-4.0.0 5.5783E-06
19449 59 A/V 144 None 0.0896 None gnomAD-4.0.0 1.59179E-06
19451 61 R/C 146 rs763871350 0.4716 None gnomAD-2.1.1 4.02E-05
19451 61 R/C 146 rs763871350 0.4716 None gnomAD-3.1.2 2.63E-05
19451 61 R/C 146 rs763871350 0.4716 None gnomAD-4.0.0 4.27677E-05
19451 61 R/H 146 rs760068789 0.4716 None gnomAD-2.1.1 1.21E-05
19451 61 R/H 146 rs760068789 0.4716 None gnomAD-3.1.2 6.58E-06
19451 61 R/H 146 rs760068789 0.4716 None gnomAD-4.0.0 8.67753E-06
19454 64 S/P 151 None 0.1880 None gnomAD-4.0.0 1.59175E-06
19455 65 G/A 152 rs770572636 0.1382 None gnomAD-2.1.1 4.02E-06
19455 65 G/A 152 rs770572636 0.1382 None gnomAD-4.0.0 1.59173E-06
19455 65 G/S 152 rs191927501 0.1382 None gnomAD-2.1.1 1.6793E-04
19455 65 G/S 152 rs191927501 0.1382 None gnomAD-3.1.2 2.10438E-04
19455 65 G/S 152 rs191927501 0.1382 None 1000 genomes 1.99681E-04
19455 65 G/S 152 rs191927501 0.1382 None gnomAD-4.0.0 2.16916E-04
19456 66 K/R 153 None 0.4227 None gnomAD-4.0.0 1.20032E-06
19458 68 C/R 155 rs867494706 0.1011 None gnomAD-4.0.0 1.59171E-06
19458 68 C/W 155 rs777855018 0.1011 None gnomAD-4.0.0 1.59172E-06
19459 69 V/E 156 None 0.0865 None gnomAD-4.0.0 1.5917E-06
19460 70 V/I 157 rs770096744 0.1497 None gnomAD-2.1.1 4.02E-06
19460 70 V/I 157 rs770096744 0.1497 None gnomAD-4.0.0 3.18339E-06
19461 71 V/L 158 rs368431326 0.0868 None gnomAD-2.1.1 4.02E-06
19461 71 V/L 158 rs368431326 0.0868 None gnomAD-4.0.0 1.5917E-06
19461 71 V/M 158 rs368431326 0.0868 None gnomAD-2.1.1 4.02E-06
19462 72 E/A 159 None 0.4161 None gnomAD-4.0.0 6.84284E-07
19462 72 E/Q 159 None 0.4161 None gnomAD-4.0.0 1.59168E-06
19462 72 E/V 159 rs781204863 0.4161 None gnomAD-2.1.1 1.61E-05
19462 72 E/V 159 rs781204863 0.4161 None gnomAD-4.0.0 6.15855E-06
19463 73 N/K 161 None 0.1112 None gnomAD-4.0.0 6.84286E-07
19464 74 S/C 162 None 0.6148 None gnomAD-4.0.0 6.00161E-06
19464 74 S/R 162 None 0.6148 None gnomAD-4.0.0 5.47432E-06
19464 74 S/T 162 None 0.6148 None gnomAD-4.0.0 2.40064E-06
19465 75 T/I 163 rs571477228 0.3271 None gnomAD-2.1.1 4.02E-06
19465 75 T/I 163 rs571477228 0.3271 None gnomAD-4.0.0 1.59172E-06
19465 75 T/R 163 rs571477228 0.3271 None gnomAD-2.1.1 4.02E-06
19465 75 T/R 163 rs571477228 0.3271 None gnomAD-3.1.2 1.32E-05
19465 75 T/R 163 rs571477228 0.3271 None 1000 genomes 1.99681E-04
19465 75 T/R 163 rs571477228 0.3271 None gnomAD-4.0.0 3.8439E-06
19466 76 G/A 164 rs201922910 0.2494 None gnomAD-2.1.1 1.57206E-04
19466 76 G/A 164 rs201922910 0.2494 None gnomAD-3.1.2 1.70976E-04
19466 76 G/A 164 rs201922910 0.2494 None gnomAD-4.0.0 2.4358E-04
19466 76 G/D 164 None 0.2494 None gnomAD-4.0.0 6.8429E-07
19466 76 G/S 164 None 0.2494 None gnomAD-4.0.0 1.20032E-06
19467 77 S/P 165 rs920055688 0.3388 None gnomAD-4.0.0 1.36859E-06
19467 77 S/T 165 rs920055688 0.3388 None gnomAD-3.1.2 6.57E-06
19467 77 S/T 165 rs920055688 0.3388 None gnomAD-4.0.0 3.7187E-06
19468 78 R/G 166 rs2050849448 0.3933 None gnomAD-4.0.0 1.5919E-06
19469 79 K/R 168 rs551642842 0.5169 None gnomAD-2.1.1 4.02E-06
19469 79 K/R 168 rs551642842 0.5169 None 1000 genomes 1.99681E-04
19470 80 G/A 169 None 0.1372 None gnomAD-4.0.0 1.36872E-06
19470 80 G/D 169 rs750836050 0.1372 None gnomAD-2.1.1 4.03E-06
19470 80 G/D 169 rs750836050 0.1372 None gnomAD-4.0.0 2.05308E-06
19470 80 G/V 169 rs750836050 0.1372 None gnomAD-2.1.1 4.03E-06
19470 80 G/V 169 rs750836050 0.1372 None gnomAD-4.0.0 1.36872E-06
19471 81 F/I 171 None 0.4427 None gnomAD-4.0.0 6.8434E-07
19471 81 F/L 171 rs867902753 0.4427 None gnomAD-3.1.2 6.58E-06
19471 81 F/L 171 rs867902753 0.4427 None gnomAD-4.0.0 6.57592E-06
19472 82 C/F 172 None 0.0832 None gnomAD-4.0.0 2.05307E-06
19473 83 Q/H 173 rs186563991 0.2887 None gnomAD-2.1.1 3.19E-05
19473 83 Q/H 173 rs186563991 0.2887 None gnomAD-3.1.2 6.57E-06
19473 83 Q/H 173 rs186563991 0.2887 None gnomAD-4.0.0 6.57479E-06
19474 84 V/I 174 rs1307485937 0.0952 None gnomAD-3.1.2 6.57E-06
19474 84 V/I 174 rs1307485937 0.0952 None gnomAD-4.0.0 6.57445E-06
19475 85 N/H 175 None 0.4068 None gnomAD-4.0.0 1.20032E-06
19475 85 N/S 175 rs755738851 0.4068 None gnomAD-2.1.1 1.43E-05
19475 85 N/S 175 rs755738851 0.4068 None gnomAD-4.0.0 4.10627E-06
19476 86 V/A 177 None 0.3705 None gnomAD-4.0.0 1.59224E-06
19476 86 V/F 177 None 0.3705 None gnomAD-4.0.0 6.84388E-07
19476 86 V/I 177 rs397517636 0.3705 None gnomAD-2.1.1 2.27783E-03
19476 86 V/I 177 rs397517636 0.3705 None gnomAD-3.1.2 6.57497E-04
19476 86 V/I 177 rs397517636 0.3705 None 1000 genomes 5.99042E-03
19476 86 V/I 177 rs397517636 0.3705 None gnomAD-4.0.0 1.12312E-03