F73I (p.Phe73Ile) variant of SETX (Helicase senataxin)
F73I (p.Phe73Ile) 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.
F73I (p.Phe73Ile) variant details
- p.Phe73Ile
- TOPMed rs1848295072
- gnomAD rs1848295072
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.38
- CADD 22.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available