I64V (p.Ile64Val) variant of KCNE2 (Q9Y6J6)
I64V (p.Ile64Val) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Long QT syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
I64V (p.Ile64Val) variant details
- p.Ile64Val
- rs1555837082
- ClinGen CA410196609
- ClinVar RCV000555620
- ClinVar RCV002413588
- Conflicting interpretations
- Cardiovascular phenotype; Long QT syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.53
- MetaSVM -0.56
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Long QT syndrome 6)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)