W305L (p.Trp305Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
W305L (p.Trp305Leu) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
W305L (p.Trp305Leu) variant details
- p.Trp305Leu
- rs120074186
- ClinGen CA008627
- ClinVar RCV000182131
- ClinVar RCV000678950
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.08
- CADD 32.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Pathogenic (in JLNS1)
- UniProt: Pathogenic (in JLNS1)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Jervell and Lange-Nielsen Syndrome. (PMID 20301579)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)