F1571L (p.Phe1571Leu) variant of SCN5A (Nav1.5)
F1571L (p.Phe1571Leu) in SCN5A (Nav1.5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Brugada 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.
F1571L (p.Phe1571Leu) variant details
- p.Phe1571Leu
- rs1369632373
- ClinGen CA352143788
- ClinVar RCV001030819
- UniProt VAR 085793
- Likely pathogenic
- Brugada syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 0.87
- SIFT 0.00
- EVE 0.73
- ClinVar: Likely pathogenic (Brugada syndrome)
- EBI: Pathogenic (in BRGDA1)
- UniProt: Pathogenic (in BRGDA1)
- Population evidence available
- Structural context available
- Cited in: Compound Heterozygous SCN5A Mutations in Severe Sodium Channelopathy With Brugada Syndrome: A Case Report. (PMID 32850980)
- Cited in: Brugada Syndrome. (PMID 20301690)