G12S (p.Gly12Ser) variant of RARA (Retinoic acid receptor alpha)
G12S (p.Gly12Ser) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- rs867198424
- gnomAD 17-40341417-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 20.20
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available