P9L (p.Pro9Leu) variant of CEBPB (P17676)
P9L (p.Pro9Leu) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P9L (p.Pro9Leu) variant details
- p.Pro9Leu
- gnomAD 20-50191059-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.06
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available