C76C (p.Cys76Cys) variant of ATXN2 (Ataxin-2)
C76C (p.Cys76Cys) in ATXN2 (Ataxin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
C76C (p.Cys76Cys) variant details
- p.Cys76Cys
- gnomAD 12-111453660-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 21.80
- Population evidence available
- Literature evidence available