H79Y (p.His79Tyr) variant of CEBPE (Q15744)
H79Y (p.His79Tyr) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H79Y (p.His79Tyr) variant details
- p.His79Tyr
- ExAC rs758288868
- TOPMed rs758288868
- gnomAD rs758288868
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.04
- MetaSVM -1.05
- CADD 21.80
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available