G42A (p.Gly42Ala) variant of ATXN1 (Ataxin-1)
G42A (p.Gly42Ala) in ATXN1 (Ataxin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G42A (p.Gly42Ala) variant details
- p.Gly42Ala
- ESP rs146653003
- ExAC rs146653003
- TOPMed rs146653003
- gnomAD rs146653003
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.02
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available