H79P (p.His79Pro) variant of CEBPE (Q15744)
H79P (p.His79Pro) in CEBPE (Q15744) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
H79P (p.His79Pro) variant details
- p.His79Pro
- gnomAD 14-23118856-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 31.00
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Literature evidence available