S7L (p.Ser7Leu) variant of RARA (Retinoic acid receptor alpha)
S7L (p.Ser7Leu) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S7L (p.Ser7Leu) variant details
- p.Ser7Leu
- gnomAD 17-40341424-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- CADD 20.10
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available