F29S (p.Phe29Ser) variant of CEBPB (P17676)
F29S (p.Phe29Ser) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
F29S (p.Phe29Ser) variant details
- p.Phe29Ser
- gnomAD 20-50191119-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.35
- CADD 29.80
- PolyPhen-2 0.72
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available