P85L (p.Pro85Leu) variant of CEBPE (Q15744)
P85L (p.Pro85Leu) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P85L (p.Pro85Leu) variant details
- p.Pro85Leu
- gnomAD 14-23118838-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.05
- MetaSVM -1.08
- CADD 21.70
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available