L12H (p.Leu12His) variant of CEBPB (P17676)
L12H (p.Leu12His) 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.
L12H (p.Leu12His) variant details
- p.Leu12His
- gnomAD 20-50191068-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.16
- CADD 26.70
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available