H79D (p.His79Asp) variant of CEBPE (Q15744)
H79D (p.His79Asp) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes structural context.
H79D (p.His79Asp) variant details
- p.His79Asp
- ExAC rs758288868
- TOPMed rs758288868
- gnomAD rs758288868
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.04
- MetaSVM -1.06
- SIFT 0.26
- Structural context available