A6D (p.Ala6Asp) variant of CEBPB (P17676)
A6D (p.Ala6Asp) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- gnomAD 20-50191050-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.04
- CADD 20.60
- PolyPhen-2 0.06
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available