V123I (p.Val123Ile) variant of ATXN3 (Ataxin-3)
V123I (p.Val123Ile) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
V123I (p.Val123Ile) variant details
- p.Val123Ile
- Ensembl rs759456959
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- CADD 17.30
- PolyPhen-2 0.04
- SIFT 0.97
- Population evidence available