F66L (p.Phe66Leu) variant of SCN10A (Q9Y5Y9)
F66L (p.Phe66Leu) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Brugada syndrome; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
F66L (p.Phe66Leu) variant details
- p.Phe66Leu
- rs199812598
- ClinGen CA2321287
- ClinVar RCV002423470
- ClinVar RCV006629451
- Conflicting interpretations
- Brugada syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.31
- MetaLR 0.58
- MetaSVM -0.50
- CADD 19.60
- PolyPhen-2 0.02
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Brugada syndrome; Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)