D8Y (p.Asp8Tyr) variant of CEBPB (P17676)
D8Y (p.Asp8Tyr) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D8Y (p.Asp8Tyr) variant details
- p.Asp8Tyr
- gnomAD 20-50191055-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.22
- CADD 25.60
- PolyPhen-2 0.65
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available