I89V (p.Ile89Val) variant of SETX (Helicase senataxin)
I89V (p.Ile89Val) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I89V (p.Ile89Val) variant details
- p.Ile89Val
- TOPMed rs1848290219
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.31
- CADD 23.50
- PolyPhen-2 0.56
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available