A10V (p.Ala10Val) variant of CEBPB (P17676)
A10V (p.Ala10Val) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- gnomAD 20-50191062-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.05
- CADD 23.60
- PolyPhen-2 0.14
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available