P29L (p.Pro29Leu) variant of RARA (Retinoic acid receptor alpha)
P29L (p.Pro29Leu) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- gnomAD 17-40331304-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.68
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available