D65V (p.Asp65Val) variant of SCN9A (Nav1.7)
D65V (p.Asp65Val) in SCN9A (Nav1.7) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
D65V (p.Asp65Val) variant details
- p.Asp65Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- MetaLR 0.95
- MetaSVM 1.09
- CADD 24.70
- PolyPhen-2 0.91
- SIFT 0.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available