G58R (p.Gly58Arg) variant of ATXN1 (Ataxin-1)
G58R (p.Gly58Arg) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- cosmic curated COSV55228
- TOPMed rs1206946298
- gnomAD rs1206946298
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.15
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available