A105T (p.Ala105Thr) variant of ATXN1 (Ataxin-1)
A105T (p.Ala105Thr) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A105T (p.Ala105Thr) variant details
- p.Ala105Thr
- cosmic curated COSV55212
- 1000Genomes rs150050637
- ESP rs150050637
- ExAC rs150050637
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.03
- AlphaMissense 0.10
- MetaLR 0.09
- MetaSVM -1.04
- CADD 20.60
- PolyPhen-2 0.52
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available