T322M (p.Thr322Met) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
T322M (p.Thr322Met) 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 in the context of Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome. 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.
T322M (p.Thr322Met) variant details
- p.Thr322Met
- rs199472755
- ClinGen CA008957
- ClinVar RCV000057831
- ClinVar RCV000182149
- Pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.50
- ClinVar: Pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; Long QT syndrome)
- EBI: Pathogenic (in JLNS1 and LQT1)
- UniProt: Pathogenic (in JLNS1 and LQT1)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical… (PMID 16414944)
- Cited in: Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long… (PMID 18400097)