D242Y (p.Asp242Tyr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
D242Y (p.Asp242Tyr) 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 not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
D242Y (p.Asp242Tyr) variant details
- p.Asp242Tyr
- rs199472712
- ClinGen CA007996
- ClinVar RCV000057739
- ClinVar RCV000182104
- Pathogenic/Likely pathogenic
- not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.10
- CADD 28.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Long QT syndrome)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Population evidence available
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)