N28D (p.Asn28Asp) variant of CEBPB (P17676)
N28D (p.Asn28Asp) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N28D (p.Asn28Asp) variant details
- p.Asn28Asp
- gnomAD 20-50191115-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.11
- CADD 24.30
- PolyPhen-2 0.53
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available