V165I (p.Val165Ile) variant of ATXN3 (Ataxin-3)
V165I (p.Val165Ile) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
V165I (p.Val165Ile) variant details
- p.Val165Ile
- gnomAD rs1382165929
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 22.60
- PolyPhen-2 0.20
- SIFT 0.27
- Most common in the REMAINING population (allele frequency 0.00048)