V280E (p.Val280Glu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
V280E (p.Val280Glu) 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/likely pathogenic in the context of Long QT syndrome; Cardiac arrhythmia. 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.
V280E (p.Val280Glu) variant details
- p.Val280Glu
- rs199473462
- ClinGen CA008454
- ClinVar RCV000046143
- ClinVar RCV000057777
- Pathogenic/Likely pathogenic
- Long QT syndrome; Cardiac arrhythmia
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.90
- CADD 28.40
- ClinVar: Pathogenic/Likely pathogenic (Long QT syndrome; Cardiac arrhythmia)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical… (PMID 16414944)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)