S91G (p.Ser91Gly) variant of ATXN1 (Ataxin-1)
S91G (p.Ser91Gly) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S91G (p.Ser91Gly) variant details
- p.Ser91Gly
- ExAC rs763922754
- gnomAD rs763922754
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.10
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available