L12R (p.Leu12Arg) variant of CEBPB (P17676)
L12R (p.Leu12Arg) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- gnomAD 20-50191068-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.19
- CADD 26.80
- PolyPhen-2 0.88
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available