T108I (p.Thr108Ile) variant of ATXN1 (Ataxin-1)
T108I (p.Thr108Ile) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
T108I (p.Thr108Ile) variant details
- p.Thr108Ile
- Ensembl rs1760883557
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.24
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 0.31
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available