F16S (p.Phe16Ser) variant of SCN10A (Nav1.8)
F16S (p.Phe16Ser) in SCN10A (Nav1.8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
F16S (p.Phe16Ser) variant details
- p.Phe16Ser
- rs2470902104
- ClinGen CA352163414
- ClinVar RCV002337871
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- REVEL 0.85
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available