A344E (p.Ala344Glu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A344E (p.Ala344Glu) 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; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
A344E (p.Ala344Glu) variant details
- p.Ala344Glu
- rs199472763
- ClinGen CA004955
- ClinVar RCV000057533
- ClinVar RCV000223742
- Pathogenic/Likely pathogenic
- Long QT syndrome; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.95
- MetaSVM 1.08
- CADD 29.70
- ClinVar: Pathogenic/Likely pathogenic (Long QT syndrome; Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Population evidence available
- Structural context available
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)