C8Y (p.Cys8Tyr) variant of RARA (Retinoic acid receptor alpha)
C8Y (p.Cys8Tyr) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
C8Y (p.Cys8Tyr) variant details
- p.Cys8Tyr
- rs1184715821
- gnomAD 17-40341454-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- CADD 21.50
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available