D84G (p.Asp84Gly) variant of SETX (Helicase senataxin)
D84G (p.Asp84Gly) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D84G (p.Asp84Gly) variant details
- p.Asp84Gly
- ExAC rs753447156
- gnomAD rs753447156
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.45
- CADD 25.10
- PolyPhen-2 0.57
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available