I70R (p.Ile70Arg) variant of SETX (Helicase senataxin)
I70R (p.Ile70Arg) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
I70R (p.Ile70Arg) variant details
- p.Ile70Arg
- TOPMed rs899867518
- gnomAD rs899867518
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.66
- CADD 24.90
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available