C8R (p.Cys8Arg) variant of RARA (Retinoic acid receptor alpha)
C8R (p.Cys8Arg) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
C8R (p.Cys8Arg) variant details
- p.Cys8Arg
- Ensembl rs1598550551
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.54
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available