P9Q (p.Pro9Gln) variant of RARA (Retinoic acid receptor alpha)
P9Q (p.Pro9Gln) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P9Q (p.Pro9Gln) variant details
- p.Pro9Gln
- gnomAD 17-40331244-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.47
- CADD 22.10
- PolyPhen-2 0.38
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available