G84E (p.Gly84Glu) variant of ATXN1 (Ataxin-1)
G84E (p.Gly84Glu) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G84E (p.Gly84Glu) variant details
- p.Gly84Glu
- ExAC rs780323436
- gnomAD rs780323436
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.20
- CADD 19.00
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available