T224M (p.Thr224Met) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
T224M (p.Thr224Met) 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 Cardiac arrhythmia; Cardiovascular phenotype; not provided. 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.
T224M (p.Thr224Met) variant details
- p.Thr224Met
- rs199472706
- ClinGen CA007860
- ClinVar RCV000057729
- ClinVar RCV000754820
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.44
- MetaLR 0.94
- MetaSVM 1.09
- CADD 25.20
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)