C76Q (p.Cys76Gln) variant of ATXN2 (Ataxin-2)
C76Q (p.Cys76Gln) in ATXN2 (Ataxin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and published literature.
C76Q (p.Cys76Gln) variant details
- p.Cys76Gln
- rs1286551180
- gnomAD 12-111453660-GCA-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 20.00
- Population evidence available
- Literature evidence available