P13L (p.Pro13Leu) variant of CEBPB (P17676)
P13L (p.Pro13Leu) 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.
P13L (p.Pro13Leu) variant details
- p.Pro13Leu
- gnomAD 20-50191071-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.08
- CADD 19.60
- PolyPhen-2 0.43
- SIFT 0.95
- Population evidence available
- Structural context available
- Literature evidence available