I4V (p.Ile4Val) variant of ATXN3 (Ataxin-3)
I4V (p.Ile4Val) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
I4V (p.Ile4Val) variant details
- p.Ile4Val
- Ensembl rs1596104708
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 24.30
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)