R77W (p.Arg77Trp) variant of KCNE2 (Q9Y6J6)
R77W (p.Arg77Trp) 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; Atrial fibrillation, familial, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R77W (p.Arg77Trp) variant details
- p.Arg77Trp
- rs141423405
- ClinGen CA211462
- ClinVar RCV000058367
- ClinVar RCV000148522
- Conflicting interpretations
- Cardiovascular phenotype; Long QT syndrome 6; Atrial fibrillation, familial, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.77
- MetaSVM 0.33
- CADD 24.10
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Long QT syndrome 6; Atrial fibrillatio)
- EBI: Pathogenic (in LQT6)
- UniProt: Pathogenic (in LQT6)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT… (PMID 16922724)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)