L57W (p.Leu57Trp) variant of SCN10A (Q9Y5Y9)
L57W (p.Leu57Trp) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L57W (p.Leu57Trp) variant details
- p.Leu57Trp
- rs2126061797
- ClinGen CA352162869
- ClinVar RCV001996581
- Ensembl rs2126061797
- Uncertain significance
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.81
- MetaLR 0.98
- MetaSVM 1.09
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Brugada Syndrome. (PMID 20301690)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)