R139Q (p.Arg139Gln) variant of SETX (Helicase senataxin)
R139Q (p.Arg139Gln) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R139Q (p.Arg139Gln) variant details
- p.Arg139Gln
- Ensembl rs1848056207
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.40
- CADD 26.30
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available