V254M (p.Val254Met) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
V254M (p.Val254Met) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
V254M (p.Val254Met) variant details
- p.Val254Met
- rs120074179
- ClinGen CA008122
- cosmic curated COSV50102
- ClinVar RCV000003265
- Pathogenic
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.92
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.07
- CADD 26.30
- ClinVar: Pathogenic (Long QT syndrome 1)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Population evidence available
- Structural context available
- Cited in: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID 10973849)
- Cited in: Effective long-term control of cardiac events with beta-blockers in a family with a common LQT1 mutation. (PMID 14756674)