F92L (p.Phe92Leu) variant of SCN10A (Nav1.8)
F92L (p.Phe92Leu) in SCN10A (Nav1.8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
F92L (p.Phe92Leu) variant details
- p.Phe92Leu
- ExAC rs781764568
- TOPMed rs781764568
- gnomAD rs781764568
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.88
- MetaLR 0.96
- MetaSVM 1.10
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available