L12F (p.Leu12Phe) variant of CEBPB (P17676)
L12F (p.Leu12Phe) in CEBPB (P17676) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- gnomAD 20-50191067-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.08
- CADD 25.20
- PolyPhen-2 0.88
- SIFT 0.03
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available