D52G (p.Asp52Gly) variant of SETX (Helicase senataxin)
D52G (p.Asp52Gly) 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.
D52G (p.Asp52Gly) variant details
- p.Asp52Gly
- TOPMed rs1848476749
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.42
- CADD 32.00
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available