V65L (p.Val65Leu) variant of KCNE2 (Q9Y6J6)
V65L (p.Val65Leu) in KCNE2 (Q9Y6J6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome 6; Atrial fibrillation, familial, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
V65L (p.Val65Leu) variant details
- p.Val65Leu
- rs199473364
- ClinGen CA329750
- ClinVar RCV000058365
- ClinVar RCV000228047
- Uncertain significance
- Long QT syndrome 6; Atrial fibrillation, familial, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.66
- MetaLR 0.72
- MetaSVM 0.23
- CADD 24.00
- ClinVar: Uncertain significance (Long QT syndrome 6; Atrial fibrillation, familial, 4)
- EBI: Variant of uncertain significance (in LQT6)
- UniProt: Uncertain significance (in LQT6)
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- 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)