R68G (p.Arg68Gly) variant of SETX (Helicase senataxin)
R68G (p.Arg68Gly) in SETX (Helicase senataxin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R68G (p.Arg68Gly) variant details
- p.Arg68Gly
- ExAC rs771481623
- TOPMed rs771481623
- gnomAD rs771481623
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.70
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available