A50G (p.Ala50Gly) variant of SETX (Helicase senataxin)
A50G (p.Ala50Gly) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A50G (p.Ala50Gly) variant details
- p.Ala50Gly
- ExAC rs746570656
- TOPMed rs746570656
- gnomAD rs746570656
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.41
- CADD 26.40
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available