F16L (p.Phe16Leu) variant of SCN10A (Q9Y5Y9)
F16L (p.Phe16Leu) in SCN10A (Q9Y5Y9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype; Brugada syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
F16L (p.Phe16Leu) variant details
- p.Phe16Leu
- rs1432009058
- ClinGen CA352163419
- ClinVar RCV001982340
- ClinVar RCV002334925
- Uncertain significance
- not provided; Cardiovascular phenotype; Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.66
- MetaLR 0.92
- MetaSVM 0.97
- CADD 23.50
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype; Brugada syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- 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)