F29V (p.Phe29Val) variant of CEBPB (P17676)
F29V (p.Phe29Val) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
F29V (p.Phe29Val) variant details
- p.Phe29Val
- gnomAD 20-50191118-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.21
- CADD 23.10
- PolyPhen-2 0.22
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available