A92G (p.Ala92Gly) variant of ATXN1 (Ataxin-1)
A92G (p.Ala92Gly) 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.
A92G (p.Ala92Gly) variant details
- p.Ala92Gly
- gnomAD rs1332659864
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.12
- AlphaMissense 0.61
- CADD 22.50
- PolyPhen-2 0.12
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available