A27D (p.Ala27Asp) variant of CEBPB (P17676)
A27D (p.Ala27Asp) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and published literature.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- gnomAD 20-50191113-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- REVEL 0.39
- CADD 27.10
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Literature evidence available