P13H (p.Pro13His) variant of CEBPB (P17676)
P13H (p.Pro13His) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P13H (p.Pro13His) variant details
- p.Pro13His
- gnomAD 20-50191071-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.13
- CADD 25.00
- PolyPhen-2 0.84
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available