P16L (p.Pro16Leu) variant of CEBPB (P17676)
P16L (p.Pro16Leu) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- gnomAD 20-50191080-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.10
- CADD 25.10
- PolyPhen-2 0.73
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available