A6V (p.Ala6Val) variant of CEBPB (P17676)
A6V (p.Ala6Val) 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.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- gnomAD 20-50191050-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.04
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available