C8* (p.Cys8Ter) variant of RARA (Retinoic acid receptor alpha)
C8* (p.Cys8Ter) in RARA (Retinoic acid receptor alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
C8* (p.Cys8Ter) variant details
- p.Cys8Ter
- gnomAD 17-40331242-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.494
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available