M66V (p.Met66Val) variant of SCN4A (Nav1.4)
M66V (p.Met66Val) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
M66V (p.Met66Val) variant details
- p.Met66Val
- ESP rs374448463
- ExAC rs374448463
- TOPMed rs374448463
- gnomAD rs374448463
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.28
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available