D41H (p.Asp41His) variant of CEBPE (Q15744)
D41H (p.Asp41His) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D41H (p.Asp41His) variant details
- p.Asp41His
- gnomAD 14-23118971-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.44
- MetaSVM -0.05
- CADD 26.90
- Most common in the 1KG:YRI population (allele frequency 0.0086)
- Structural context available
- Literature evidence available