A20D (p.Ala20Asp) variant of CEBPB (P17676)
A20D (p.Ala20Asp) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A20D (p.Ala20Asp) variant details
- p.Ala20Asp
- gnomAD 20-50191092-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.08
- CADD 25.40
- PolyPhen-2 0.64
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available