C8D (p.Cys8Asp) variant of RARA (Retinoic acid receptor alpha)
C8D (p.Cys8Asp) in RARA (Retinoic acid receptor alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
C8D (p.Cys8Asp) variant details
- p.Cys8Asp
- rs777315412
- gnomAD 17-40331237-TCCTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 27.60
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available