A344T (p.Ala344Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A344T (p.Ala344Thr) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A344T (p.Ala344Thr) variant details
- p.Ala344Thr
- rs1554894481
- ClinGen CA379133132
- ClinVar RCV000523507
- ClinVar RCV001851477
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.92
- MetaSVM 1.05
- CADD 32.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Likely pathogenic (in LQT1)
- UniProt: Likely pathogenic (in LQT1)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)