I162L (p.Ile162Leu) variant of ATXN3 (Ataxin-3)
I162L (p.Ile162Leu) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
I162L (p.Ile162Leu) variant details
- p.Ile162Leu
- ExAC rs777729152
- gnomAD rs777729152
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- CADD 27.30
- PolyPhen-2 0.73
- SIFT 0.00
- Population evidence available