P19H (p.Pro19His) variant of CEBPB (P17676)
P19H (p.Pro19His) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P19H (p.Pro19His) variant details
- p.Pro19His
- gnomAD 20-50191089-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.09
- CADD 25.40
- PolyPhen-2 0.91
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available