H79R (p.His79Arg) variant of CEBPE (Q15744)
H79R (p.His79Arg) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H79R (p.His79Arg) variant details
- p.His79Arg
- gnomAD 14-23118856-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.04
- MetaSVM -1.08
- CADD 19.40
- Most common in the 1KG:YRI population (allele frequency 0.013)
- Structural context available
- Literature evidence available