A21P (p.Ala21Pro) variant of ATXN1 (Ataxin-1)
A21P (p.Ala21Pro) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A21P (p.Ala21Pro) variant details
- p.Ala21Pro
- ExAC rs774113311
- TOPMed rs774113311
- gnomAD rs774113311
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.24
- AlphaMissense 0.32
- CADD 22.50
- PolyPhen-2 0.16
- SIFT 0.01
- Population evidence available
- Structural context available