D84V (p.Asp84Val) variant of SETX (Helicase senataxin)
D84V (p.Asp84Val) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
D84V (p.Asp84Val) variant details
- p.Asp84Val
- ExAC rs753447156
- gnomAD rs753447156
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.53
- CADD 25.40
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available