I130T (p.Ile130Thr) variant of ATXN1 (Ataxin-1)
I130T (p.Ile130Thr) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
I130T (p.Ile130Thr) variant details
- p.Ile130Thr
- ExAC rs746993452
- TOPMed rs746993452
- gnomAD rs746993452
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.30
- CADD 25.40
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available