W176R (p.Trp176Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
W176R (p.Trp176Arg) 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 Long QT syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W176R (p.Trp176Arg) variant details
- p.Trp176Arg
- rs1554892900
- ClinGen CA379129880
- ClinVar RCV000521673
- ClinVar RCV003647781
- Conflicting interpretations
- Long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.81
- CADD 28.90
- ClinVar: Conflicting classifications of pathogenicity (Long QT syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Normalized currents of 62 KCNQ1 missense SNVs in the homozygous state.: score 0.0243
- 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)