R27H (p.Arg27His) variant of KCNE2 (Q9Y6J6)
R27H (p.Arg27His) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- rs148968498
- ClinGen CA211459
- ClinVar RCV000058378
- ClinVar RCV000148520
- Conflicting interpretations
- Cardiovascular phenotype; Long QT syndrome 6; Atrial fibrillation, familial, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.76
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.84
- MetaSVM 0.85
- CADD 23.80
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Long QT syndrome 6; Atrial fibrillatio)
- EBI: Benign (in LQT6)
- UniProt: Benign (in LQT6)
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)