A99V (p.Ala99Val) variant of ATXN1 (Ataxin-1)
A99V (p.Ala99Val) in ATXN1 (Ataxin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
A99V (p.Ala99Val) variant details
- p.Ala99Val
- TOPMed rs1052847025
- gnomAD rs1052847025
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.09
- AlphaMissense 0.26
- MetaLR 0.23
- MetaSVM -0.68
- CADD 19.90
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available