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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 90 100
P P G P P S C P E V K D K T K S S I S L G W K P P A K D G G S P I K G Y I V E M Q E E G T T D W K R V N E P D K L I T T C E C V V P N L K E L R K Y R F R V K A V N E A G E S E P S D T T G E I P A T D

Map SAVs to Structure

Pin SAV
Position
Domain position
SAV
Structural Position
RS
Q(SASA)
Disease
Source
MAF
18272 1 P/L 1 rs892008187 0.5542 None gnomAD-4.0.0 7.44476E-07
18272 1 P/S 1 None 0.5542 None gnomAD-4.0.0 3.99739E-06
18273 2 P/A 2 None 0.1217 None gnomAD-4.0.0 7.41087E-07
18273 2 P/L 2 rs201035511 0.1217 None gnomAD-2.1.1 3.99176E-04
18273 2 P/L 2 rs201035511 0.1217 None gnomAD-3.1.2 4.81124E-04
18273 2 P/L 2 rs201035511 0.1217 None gnomAD-4.0.0 6.30037E-04
18273 2 P/R 2 None 0.1217 None gnomAD-4.0.0 7.40058E-07
18275 4 P/A 4 rs765408419 0.4198 None gnomAD-2.1.1 2.18E-05
18275 4 P/A 4 rs765408419 0.4198 None gnomAD-4.0.0 5.64364E-06
18275 4 P/L 4 None 0.4198 None gnomAD-4.0.0 1.87755E-06
18276 5 P/L 5 rs971758179 0.1188 None gnomAD-2.1.1 3.2E-05
18276 5 P/L 5 rs971758179 0.1188 None gnomAD-3.1.2 6.59E-06
18276 5 P/L 5 rs971758179 0.1188 None gnomAD-4.0.0 1.97796E-06
18276 5 P/R 5 rs971758179 0.1188 None gnomAD-4.0.0 4.39586E-06
18278 7 C/F 7 rs1213616804 0.2453 None gnomAD-4.0.0 2.16261E-06
18278 7 C/R 7 rs2053721931 0.2453 None gnomAD-4.0.0 1.78027E-06
18279 8 P/S 9 None 0.1656 None gnomAD-4.0.0 1.77372E-06
18280 9 E/K 11 rs904716065 0.7480 None gnomAD-4.0.0 1.42187E-06
18283 12 D/N 14 None 0.5322 None gnomAD-4.0.0 7.03831E-07
18283 12 D/Y 14 None 0.5322 None gnomAD-4.0.0 2.11149E-06
18285 14 T/M 16 rs761825854 0.3313 None gnomAD-2.1.1 3.2E-05
18285 14 T/M 16 rs761825854 0.3313 None gnomAD-3.1.2 1.32E-05
18285 14 T/M 16 rs761825854 0.3313 None gnomAD-4.0.0 9.48576E-06
18288 17 S/C 19 None 0.2359 None gnomAD-4.0.0 6.94182E-07
18289 18 I/M 20 None 0.1006 None gnomAD-4.0.0 1.20032E-06
18289 18 I/T 20 None 0.1006 None gnomAD-4.0.0 1.20032E-06
18290 19 S/L 21 None 0.2085 None gnomAD-4.0.0 1.62226E-06
18291 20 L/I 22 None 0.1206 None gnomAD-4.0.0 1.61793E-06
18291 20 L/P 22 rs769159180 0.1206 None gnomAD-3.1.2 6.58E-06
18291 20 L/P 22 rs769159180 0.1206 None gnomAD-4.0.0 2.59576E-06
18291 20 L/R 22 rs769159180 0.1206 None gnomAD-2.1.1 2.55E-05
18291 20 L/R 22 rs769159180 0.1206 None gnomAD-4.0.0 8.08303E-06
18291 20 L/V 22 None 0.1206 None gnomAD-4.0.0 1.61793E-06
18292 21 G/E 23 None 0.1275 None gnomAD-4.0.0 1.6117E-06
18292 21 G/R 23 rs377512675 0.1275 None gnomAD-2.1.1 3.81E-05
18292 21 G/R 23 rs377512675 0.1275 None gnomAD-3.1.2 1.98E-05
18292 21 G/R 23 rs377512675 0.1275 None gnomAD-4.0.0 4.61092E-05
18294 23 K/N 25 rs770482704 0.7488 None gnomAD-2.1.1 4.16E-06
18294 23 K/N 25 rs770482704 0.7488 None gnomAD-4.0.0 1.37286E-06
18294 23 K/T 25 None 0.7488 None gnomAD-4.0.0 1.20032E-06
18295 24 P/S 26 rs1162176452 0.4853 None gnomAD-2.1.1 3.19E-05
18295 24 P/S 26 rs1162176452 0.4853 None gnomAD-3.1.2 1.32E-05
18295 24 P/S 26 rs1162176452 0.4853 None gnomAD-4.0.0 5.15904E-06
18299 28 D/N 30 None 0.3854 None gnomAD-4.0.0 6.85832E-07
18299 28 D/Y 30 rs749005996 0.3854 None gnomAD-2.1.1 4.11E-06
18299 28 D/Y 30 rs749005996 0.3854 None gnomAD-4.0.0 1.37166E-06
18300 29 G/S 31 None 0.4168 None gnomAD-4.0.0 1.59914E-06
18303 32 P/L 34 None 0.7357 None gnomAD-4.0.0 3.19368E-06
18304 33 I/V 35 rs1011162214 0.2426 None gnomAD-3.1.2 6.58E-06
18304 33 I/V 35 rs1011162214 0.2426 None gnomAD-4.0.0 1.73747E-05
18307 36 Y/H 38 None 0.1202 None gnomAD-4.0.0 1.59536E-06
18308 37 I/N 39 rs369024446 0.1665 None gnomAD-2.1.1 4.05E-06
18308 37 I/N 39 rs369024446 0.1665 None gnomAD-4.0.0 6.84942E-07
18308 37 I/S 39 rs369024446 0.1665 None gnomAD-2.1.1 8.09E-06
18308 37 I/S 39 rs369024446 0.1665 None gnomAD-3.1.2 1.32E-05
18308 37 I/S 39 rs369024446 0.1665 None gnomAD-4.0.0 1.17879E-05
18308 37 I/T 39 None 0.1665 None gnomAD-4.0.0 6.84942E-07
18308 37 I/V 39 None 0.1665 None gnomAD-4.0.0 4.8013E-06
18309 38 V/L 40 rs1474621978 0.1304 None gnomAD-2.1.1 4.05E-06
18309 38 V/L 40 rs1474621978 0.1304 None gnomAD-4.0.0 6.84905E-07
18311 40 M/I 42 rs564906146 0.2415 None gnomAD-2.1.1 7.89E-05
18311 40 M/I 42 rs564906146 0.2415 None gnomAD-3.1.2 1.97E-05
18311 40 M/I 42 rs564906146 0.2415 None 1000 genomes 1.99681E-04
18311 40 M/I 42 rs564906146 0.2415 None gnomAD-4.0.0 3.84566E-05
18311 40 M/T 42 rs1553676016 0.2415 None gnomAD-4.0.0 1.59477E-06
18312 41 Q/R 43 rs754977491 0.1454 None gnomAD-2.1.1 4.04E-06
18312 41 Q/R 43 rs754977491 0.1454 None gnomAD-4.0.0 1.59458E-06
18313 42 E/D 44 rs751397444 0.2145 None gnomAD-2.1.1 4.04E-06
18315 44 G/D 54 rs779940105 0.6885 None gnomAD-2.1.1 1.21E-05
18315 44 G/D 54 rs779940105 0.6885 None gnomAD-4.0.0 2.05436E-06
18315 44 G/S 54 None 0.6885 None gnomAD-4.0.0 1.36961E-06
18316 45 T/I 60 None 0.3538 None gnomAD-4.0.0 1.59429E-06
18316 45 T/S 60 rs758527900 0.3538 None gnomAD-2.1.1 7.46968E-04
18316 45 T/S 60 rs758527900 0.3538 None gnomAD-3.1.2 4.61E-05
18316 45 T/S 60 rs758527900 0.3538 None gnomAD-4.0.0 2.70801E-04
18317 46 T/A 63 rs1487036474 0.8053 None gnomAD-2.1.1 4.04E-06
18317 46 T/A 63 rs1487036474 0.8053 None gnomAD-4.0.0 1.59407E-06
18318 47 D/E 64 rs951863461 0.6876 None gnomAD-3.1.2 6.58E-06
18318 47 D/E 64 rs951863461 0.6876 None gnomAD-4.0.0 2.5666E-06
18318 47 D/Y 64 None 0.6876 None gnomAD-4.0.0 1.5942E-06
18319 48 W/G 65 None 0.2694 None gnomAD-4.0.0 1.20032E-06
18321 50 R/G 67 None 0.2158 None gnomAD-4.0.0 1.20032E-06
18321 50 R/K 67 rs750609591 0.2158 None gnomAD-2.1.1 1.07E-05
18321 50 R/K 67 rs750609591 0.2158 None gnomAD-3.1.2 6.58E-06
18321 50 R/K 67 rs750609591 0.2158 None gnomAD-4.0.0 8.06231E-06
18321 50 R/T 67 None 0.2158 None gnomAD-4.0.0 6.84698E-07
18322 51 V/I 68 None 0.3315 None gnomAD-4.0.0 4.80129E-06
18323 52 N/K 69 rs765413044 0.1459 None gnomAD-2.1.1 4.03E-06
18323 52 N/K 69 rs765413044 0.1459 None gnomAD-4.0.0 4.78123E-06
18324 53 E/Q 70 None 0.5800 None gnomAD-4.0.0 1.59372E-06
18325 54 P/A 72 rs374713945 0.5126 None gnomAD-2.1.1 8.06E-06
18325 54 P/A 72 rs374713945 0.5126 None gnomAD-4.0.0 1.3693E-06
18325 54 P/R 72 rs879091548 0.5126 None gnomAD-2.1.1 4.03E-06
18325 54 P/R 72 rs879091548 0.5126 None gnomAD-3.1.2 1.32E-05
18325 54 P/R 72 rs879091548 0.5126 None gnomAD-4.0.0 5.13256E-06
18325 54 P/S 72 None 0.5126 None gnomAD-4.0.0 2.05396E-06
18325 54 P/T 72 None 0.5126 None gnomAD-4.0.0 4.79256E-06
18326 55 D/E 73 None 0.9162 None gnomAD-4.0.0 1.59353E-06
18326 55 D/G 73 None 0.9162 None gnomAD-4.0.0 1.59352E-06
18326 55 D/N 73 rs1553675887 0.9162 None gnomAD-4.0.0 1.20032E-06
18329 58 I/V 77 None 0.1698 None gnomAD-4.0.0 1.3692E-06
18331 60 T/I 88 rs2053691447 0.5261 None gnomAD-4.0.0 1.59343E-06
18333 62 E/D 90 rs764950995 0.4295 None gnomAD-2.1.1 4.03E-06
18333 62 E/D 90 rs764950995 0.4295 None gnomAD-3.1.2 4.61E-05
18333 62 E/D 90 rs764950995 0.4295 None gnomAD-4.0.0 6.13903E-05
18334 63 C/R 91 rs1375579390 0.1951 None gnomAD-4.0.0 8.21536E-06
18335 64 V/A 92 None 0.5268 None gnomAD-4.0.0 1.59337E-06
18336 65 V/E 93 None 0.1650 None gnomAD-4.0.0 1.59327E-06
18337 66 P/L 94 rs764568599 0.4767 None gnomAD-2.1.1 1.53053E-04
18337 66 P/L 94 rs764568599 0.4767 None gnomAD-3.1.2 1.98E-05
18337 66 P/L 94 rs764568599 0.4767 None gnomAD-4.0.0 6.67007E-05
18337 66 P/R 94 None 0.4767 None gnomAD-4.0.0 1.59324E-06
18338 67 N/K 96 None 0.8436 None gnomAD-4.0.0 1.20032E-06
18339 68 L/M 97 rs773396552 0.1441 None gnomAD-2.1.1 1.21E-05
18339 68 L/M 97 rs773396552 0.1441 None gnomAD-3.1.2 1.32E-05
18339 68 L/M 97 rs773396552 0.1441 None gnomAD-4.0.0 3.53441E-05
18339 68 L/V 97 rs773396552 0.1441 None gnomAD-4.0.0 6.84569E-07
18342 71 L/F 100 None 0.8515 None gnomAD-4.0.0 1.36917E-06
18342 71 L/I 100 rs1003576282 0.8515 None gnomAD-3.1.2 6.58E-06
18342 71 L/I 100 rs1003576282 0.8515 None gnomAD-4.0.0 2.48038E-06
18343 72 R/K 102 rs775796823 0.2707 None gnomAD-2.1.1 4.03E-06
18343 72 R/K 102 rs775796823 0.2707 None gnomAD-4.0.0 6.37296E-06
18344 73 K/R 103 None 0.2466 None gnomAD-4.0.0 1.59322E-06
18345 74 Y/H 104 rs2053680681 0.1073 None gnomAD-3.1.2 6.58E-06
18345 74 Y/H 104 rs2053680681 0.1073 None gnomAD-4.0.0 6.57955E-06
18346 75 R/I 105 rs573136400 0.3627 None gnomAD-2.1.1 3.93E-05
18346 75 R/I 105 rs573136400 0.3627 None gnomAD-3.1.2 6.58E-05
18346 75 R/I 105 rs573136400 0.3627 None 1000 genomes 1.99681E-04
18346 75 R/I 105 rs573136400 0.3627 None gnomAD-4.0.0 1.24001E-05
18347 76 F/I 106 None 0.1136 None gnomAD-4.0.0 1.59323E-06
18347 76 F/L 106 rs761905658 0.1136 None gnomAD-4.0.0 2.73827E-06
18348 77 R/G 107 None 0.1371 None gnomAD-4.0.0 1.5932E-06
18348 77 R/K 107 None 0.1371 None gnomAD-4.0.0 7.20193E-06
18349 78 V/G 108 rs772880269 0.0794 None gnomAD-2.1.1 8.06E-06
18349 78 V/G 108 rs772880269 0.0794 None gnomAD-4.0.0 2.05371E-06
18350 79 K/E 109 None 0.2038 None gnomAD-4.0.0 6.00162E-06
18351 80 A/G 110 rs948552885 0.0824 None gnomAD-2.1.1 1.43E-05
18351 80 A/G 110 rs948552885 0.0824 None gnomAD-3.1.2 6.58E-06
18351 80 A/G 110 rs948552885 0.0824 None gnomAD-4.0.0 6.41264E-06
18351 80 A/V 110 None 0.0824 None gnomAD-4.0.0 1.59321E-06
18352 81 V/I 111 rs769334194 0.1822 None gnomAD-2.1.1 2.82E-05
18352 81 V/I 111 rs769334194 0.1822 None gnomAD-3.1.2 3.29E-05
18352 81 V/I 111 rs769334194 0.1822 None gnomAD-4.0.0 2.18026E-05
18353 82 N/H 112 None 0.1171 None gnomAD-4.0.0 1.59317E-06
18353 82 N/S 112 rs747601378 0.1171 None gnomAD-2.1.1 2.5E-05
18353 82 N/S 112 rs747601378 0.1171 None gnomAD-3.1.2 1.97E-05
18353 82 N/S 112 rs747601378 0.1171 None gnomAD-4.0.0 8.68034E-06
18354 83 E/G 113 None 0.7801 None gnomAD-4.0.0 1.59318E-06
18354 83 E/Q 113 rs1559697777 0.7801 None gnomAD-3.1.2 6.58E-06
18354 83 E/Q 113 rs1559697777 0.7801 None gnomAD-4.0.0 3.84745E-06
18355 84 A/P 114 rs2053671258 0.4828 None gnomAD-3.1.2 6.58E-06
18355 84 A/P 114 rs2053671258 0.4828 None gnomAD-4.0.0 5.07543E-06
18356 85 G/A 115 None 0.2228 None gnomAD-4.0.0 1.20032E-06
18358 87 S/F 118 None 0.0908 None gnomAD-4.0.0 1.59326E-06
18360 89 P/A 120 None 0.3084 None gnomAD-4.0.0 1.59321E-06
18360 89 P/L 120 rs192788942 0.3084 None gnomAD-2.1.1 1.6111E-04
18360 89 P/L 120 rs192788942 0.3084 None gnomAD-3.1.2 4.86925E-04
18360 89 P/L 120 rs192788942 0.3084 None 1000 genomes 7.98722E-04
18360 89 P/L 120 rs192788942 0.3084 None gnomAD-4.0.0 8.86623E-05
18362 91 D/H 122 rs1467267606 0.8555 None gnomAD-2.1.1 4.03E-06
18362 91 D/H 122 rs1467267606 0.8555 None gnomAD-4.0.0 1.36916E-06
18362 91 D/N 122 None 0.8555 None gnomAD-4.0.0 6.84578E-07
18362 91 D/Y 122 None 0.8555 None gnomAD-4.0.0 1.36916E-06
18363 92 T/I 123 rs1275266098 0.4288 None gnomAD-2.1.1 7.16E-06
18363 92 T/I 123 rs1275266098 0.4288 None gnomAD-3.1.2 6.58E-06
18363 92 T/I 123 rs1275266098 0.4288 None gnomAD-4.0.0 3.10026E-06
18363 92 T/R 123 None 0.4288 None gnomAD-4.0.0 2.73832E-06
18364 93 T/A 124 rs1467489292 0.1672 None gnomAD-3.1.2 6.58E-06
18364 93 T/A 124 rs1467489292 0.1672 None gnomAD-4.0.0 6.57748E-06
18365 94 G/A 125 rs2053664873 0.3752 None gnomAD-4.0.0 1.20032E-06
18365 94 G/R 125 rs779878917 0.3752 None gnomAD-2.1.1 4.04E-06
18365 94 G/R 125 rs779878917 0.3752 None gnomAD-4.0.0 4.78037E-06
18366 95 E/D 126 rs1269570668 0.3829 None gnomAD-2.1.1 4.04E-06
18366 95 E/D 126 rs1269570668 0.3829 None gnomAD-4.0.0 7.53128E-06
18366 95 E/K 126 None 0.3829 None gnomAD-4.0.0 1.59354E-06
18367 96 I/S 127 rs758176369 0.1604 None gnomAD-4.0.0 1.59366E-06
18368 97 P/L 129 rs750193854 0.3274 None gnomAD-2.1.1 8.08E-06
18368 97 P/L 129 rs750193854 0.3274 None gnomAD-4.0.0 3.18738E-06
18368 97 P/S 129 rs1220806171 0.3274 None gnomAD-2.1.1 3.19E-05