N28H (p.Asn28His) variant of CEBPB (P17676)
N28H (p.Asn28His) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N28H (p.Asn28His) variant details
- p.Asn28His
- gnomAD 20-50191115-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.11
- CADD 25.70
- PolyPhen-2 0.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available