V10L (p.Val10Leu) variant of SCN4A (Nav1.4)
V10L (p.Val10Leu) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V10L (p.Val10Leu) variant details
- p.Val10Leu
- gnomAD rs1305217778
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.21
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available