T322K (p.Thr322Lys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
T322K (p.Thr322Lys) 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; Long QT syndrome 1; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
T322K (p.Thr322Lys) variant details
- p.Thr322Lys
- rs199472755
- ClinGen CA008945
- ClinVar RCV000057830
- ClinVar RCV000853590
- Conflicting interpretations
- Cardiovascular phenotype; Long QT syndrome 1; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Long QT syndrome 1; Long QT syndrome)
- EBI: Pathogenic (in JLNS1 and LQT1)
- UniProt: Pathogenic (in JLNS1 and LQT1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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)