T322A (p.Thr322Ala) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
T322A (p.Thr322Ala) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
T322A (p.Thr322Ala) variant details
- p.Thr322Ala
- rs199472754
- ClinGen CA008936
- ClinVar RCV000057829
- ClinVar RCV000182147
- Pathogenic/Likely pathogenic
- Long QT syndrome; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.96
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Long QT syndrome; Cardiac arrhythmia; not provided)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- 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: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)