A300T (p.Ala300Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A300T (p.Ala300Thr) 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 Cardiac arrhythmia; Long QT syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A300T (p.Ala300Thr) variant details
- p.Ala300Thr
- rs120074187
- ClinGen CA008554
- ClinVar RCV000003276
- ClinVar RCV000057789
- Conflicting interpretations
- Cardiac arrhythmia; Long QT syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.91
- MetaSVM 0.99
- CADD 27.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiac arrhythmia; not specified; Cardiovascular phenotype)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Risk stratification in the long-QT syndrome. (PMID 12736279)
- Cited in: A recessive variant of the Romano-Ward long-QT syndrome? (PMID 9641694)