P109A (p.Pro109Ala) variant of ATXN1 (Ataxin-1)
P109A (p.Pro109Ala) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P109A (p.Pro109Ala) variant details
- p.Pro109Ala
- TOPMed rs1035345633
- gnomAD rs1035345633
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.18
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.86
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available