T113I (p.Thr113Ile) variant of ATXN1 (Ataxin-1)
T113I (p.Thr113Ile) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T113I (p.Thr113Ile) variant details
- p.Thr113Ile
- ESP rs367700814
- TOPMed rs367700814
- gnomAD rs367700814
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.18
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.10
- CADD 23.00
- PolyPhen-2 0.80
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available