I107T (p.Ile107Thr) variant of ATXN3 (Ataxin-3)
I107T (p.Ile107Thr) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data.
I107T (p.Ile107Thr) variant details
- p.Ile107Thr
- ESP rs371630976
- ExAC rs371630976
- TOPMed rs371630976
- gnomAD rs371630976
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 23.50
- PolyPhen-2 0.13
- SIFT 0.40
- Most common in the 1KG:CLM population (allele frequency 0.0053)