C76F (p.Cys76Phe) variant of ATXN2 (Ataxin-2)
C76F (p.Cys76Phe) in ATXN2 (Ataxin-2) is a missense 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.
C76F (p.Cys76Phe) variant details
- p.Cys76Phe
- gnomAD 12-111453661-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 21.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Literature evidence available