In Silico Data
KCNH2 Variant Y420S Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-8.565 | 0.997 | -2 | 0.962 | 93 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT2 | Other Disease |
---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 0 | 0 | 0 | - |
VARIANT FEATURES ALONE: | - | 10 | 8 | 2 | - |
Y420S has 48 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
413 | 12 | L413P, |
414 | 11 | I414fsX, |
415 | 11 | |
416 | 8 | |
417 | 6 | |
418 | 7 | |
419 | 7 | |
420 | 0 | Y420C, |
421 | 5 | T421fsX, T421M, |
422 | 7 | A422T, |
423 | 6 | |
424 | 5 | |
425 | 8 | |
426 | 10 | P426H, |
427 | 11 | Y427S, Y427C, Y427H, |
428 | 10 | S428fsX, S428L, S428X, |
429 | 13 | A429P, A429V, |
450 | 14 | |
451 | 12 | P451L, |
452 | 9 | |
453 | 10 | |
454 | 11 | |
455 | 7 | |
456 | 7 | D456Y, |
457 | 11 | L457P, |
458 | 10 | |
459 | 7 | |
460 | 10 | D460fsX, |
461 | 13 | |
462 | 12 | M462Ins, |
463 | 11 | F463L, F463L, F463L, |
504 | 13 | A504V, |
525 | 12 | K525N, K525N, |
526 | 13 | |
527 | 13 | |
528 | 9 | R528X, R528P, R528W, |
529 | 11 | |
530 | 14 | |
531 | 9 | R531Del, R531W, R531Q, |
532 | 12 | |
534 | 14 | R534C, |
535 | 15 | V535M, |
555 | 14 | |
558 | 14 | A558V, A558E, A558P, |
559 | 12 | L559F, L559H, |
562 | 12 | H562Q, H562P, H562R, H562Q, |
563 | 13 | W563C, W563G, W563X, W563C, |
566 | 15 | C566S, C566R, C566F, C566S, C566G, |