L42F (p.Leu42Phe) variant of CEBPE (Q15744)
L42F (p.Leu42Phe) in CEBPE (Q15744) 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.
L42F (p.Leu42Phe) variant details
- p.Leu42Phe
- gnomAD 14-23118968-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.69
- MetaLR 0.04
- MetaSVM -1.09
- CADD 23.40
- Most common in the 1KG:YRI population (allele frequency 0.017)
- Structural context available
- Literature evidence available