L12I (p.Leu12Ile) variant of CEBPB (P17676)
L12I (p.Leu12Ile) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- gnomAD 20-50191067-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.06
- CADD 23.30
- PolyPhen-2 0.68
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available