V60I (p.Val60Ile) variant of SETX (Helicase senataxin)
V60I (p.Val60Ile) in SETX (Helicase senataxin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V60I (p.Val60Ile) variant details
- p.Val60Ile
- TOPMed rs1445955234
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.12
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available