In Silico Data
KCNH2 Variant V465E Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density (%) |
---|---|---|---|---|
-5.393 | 0.969 | -3 | 0.967 | 56 |
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 | 9 | 1 | - |
V465E has 38 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
400 | 13 | I400N, |
406 | 12 | |
407 | 12 | |
409 | 15 | V409L, V409L, V409M, |
410 | 8 | W410X, |
411 | 13 | |
413 | 12 | L413P, |
414 | 10 | I414fsX, |
417 | 12 | |
418 | 14 | |
456 | 15 | D456Y, |
457 | 13 | L457P, |
458 | 11 | |
459 | 10 | |
460 | 10 | D460fsX, |
461 | 6 | |
462 | 5 | M462Ins, |
463 | 7 | F463L, F463L, F463L, |
464 | 5 | I464X, |
465 | 0 | |
466 | 5 | D466E, D466E, |
467 | 6 | |
468 | 5 | L468X, L468F, L468R, |
469 | 6 | |
470 | 9 | N470D, |
471 | 10 | F471X, |
472 | 12 | R472X, R472C, |
473 | 12 | T473P, |
493 | 13 | Y493C, Y493Ins, Y493F, Y493H, |
498 | 13 | |
501 | 12 | D501Y, D501H, D501N, |
502 | 13 | M502I, M502I, M502I, |
504 | 12 | A504V, |
505 | 10 | A505V, |
506 | 14 | I506V, |
507 | 14 | P507L, P507S, |
531 | 12 | R531W, R531Q, R531Del, |
534 | 11 | R534C, |