P154R (p.Pro154Arg) variant of SETX (Helicase senataxin)
P154R (p.Pro154Arg) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P154R (p.Pro154Arg) variant details
- p.Pro154Arg
- TOPMed rs1395595282
- gnomAD rs1395595282
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.62
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available