G34A (p.Gly34Ala) variant of RARA (Retinoic acid receptor alpha)
G34A (p.Gly34Ala) 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, published literature, and structural context.
G34A (p.Gly34Ala) variant details
- p.Gly34Ala
- gnomAD 17-40331319-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.45
- CADD 22.60
- PolyPhen-2 0.10
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available