D242N (p.Asp242Asn) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
D242N (p.Asp242Asn) 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 Congenital long QT syndrome; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D242N (p.Asp242Asn) variant details
- p.Asp242Asn
- rs199472712
- ClinGen CA007986
- ClinVar RCV000046110
- ClinVar RCV000057738
- Pathogenic/Likely pathogenic
- Congenital long QT syndrome; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.09
- CADD 27.90
- ClinVar: Pathogenic/Likely pathogenic (Congenital long QT syndrome; Cardiovascular phenotype; not provi)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- 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)