G84W (p.Gly84Trp) variant of ATXN1 (Ataxin-1)
G84W (p.Gly84Trp) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G84W (p.Gly84Trp) variant details
- p.Gly84Trp
- gnomAD rs1181535350
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.23
- CADD 23.40
- PolyPhen-2 0.41
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available