N28K (p.Asn28Lys) variant of CEBPB (P17676)
N28K (p.Asn28Lys) 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.
N28K (p.Asn28Lys) variant details
- p.Asn28Lys
- gnomAD 20-50191117-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.08
- CADD 24.80
- PolyPhen-2 0.61
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available