L54F (p.Leu54Phe) variant of CEBPE (Q15744)
L54F (p.Leu54Phe) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- gnomAD 14-23118932-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.48
- MetaLR 0.09
- MetaSVM -1.07
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available