A105P (p.Ala105Pro) variant of ATXN1 (Ataxin-1)
A105P (p.Ala105Pro) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A105P (p.Ala105Pro) variant details
- p.Ala105Pro
- cosmic curated COSV55212
- 1000Genomes rs150050637
- ESP rs150050637
- ExAC rs150050637
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.08
- AlphaMissense 0.31
- MetaLR 0.13
- MetaSVM -0.89
- CADD 20.90
- PolyPhen-2 0.94
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available