Y111C (p.Tyr111Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
Y111C (p.Tyr111Cys) 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; not provided; Long QT syndrome. 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.
Y111C (p.Tyr111Cys) variant details
- p.Tyr111Cys
- rs199472678
- ClinGen CA006810
- ClinVar RCV000057659
- ClinVar RCV000182260
- Pathogenic
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 1.00
- MetaSVM 0.90
- CADD 31.00
- ClinVar: Pathogenic (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Cited in: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID 10973849)
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)