R27C (p.Arg27Cys) variant of KCNE2 (Q9Y6J6)
R27C (p.Arg27Cys) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R27C (p.Arg27Cys) variant details
- p.Arg27Cys
- rs74315449
- ClinGen CA117924
- ClinVar RCV000006427
- ClinVar RCV000058377
- Conflicting interpretations
- Cardiovascular phenotype; Long QT syndrome 6; Atrial fibrillation, familial, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.87
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.85
- MetaSVM 0.86
- CADD 24.40
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Long QT syndrome 6; Atrial fibrillatio)
- EBI: Pathogenic (in ATFB4)
- UniProt: Pathogenic (in ATFB4)
- Most common in the East Asian population (allele frequency 0.00096)
- Structural context available
- Cited in: Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. (PMID 15368194)
- Cited in: KCNE2 modulates cardiac L-type Ca(2+) channel. (PMID 24681347)