G42D (p.Gly42Asp) variant of ATXN1 (Ataxin-1)
G42D (p.Gly42Asp) in ATXN1 (Ataxin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G42D (p.Gly42Asp) variant details
- p.Gly42Asp
- cosmic curated COSV55221
- ESP rs146653003
- ExAC rs146653003
- TOPMed rs146653003
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.02
- CADD 16.10
- PolyPhen-2 0.02
- SIFT 0.19
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available