V5M (p.Val5Met) variant of SCN1A (Nav1.1)
V5M (p.Val5Met) in SCN1A (Nav1.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- gnomAD rs1684709924
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- CADD 22.90
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available