Y315C (p.Tyr315Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
Y315C (p.Tyr315Cys) 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 0.88 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y315C (p.Tyr315Cys) variant details
- p.Tyr315Cys
- rs74462309
- ClinGen CA008807
- cosmic curated COSV50102
- ClinVar RCV000057816
- Pathogenic/Likely pathogenic
- Cardiac arrhythmia; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.06
- CADD 27.40
- ClinVar: Pathogenic/Likely pathogenic (Cardiac arrhythmia; Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Normalized currents of 62 KCNQ1 missense SNVs in the homozygous state.: score -0.0162
- 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)