P11A (p.Pro11Ala) variant of RARA (Retinoic acid receptor alpha)
P11A (p.Pro11Ala) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- gnomAD 17-40331249-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.31
- CADD 16.20
- PolyPhen-2 0.02
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available