H79N (p.His79Asn) variant of CEBPE (Q15744)
H79N (p.His79Asn) in CEBPE (Q15744) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
H79N (p.His79Asn) variant details
- p.His79Asn
- ExAC rs758288868
- TOPMed rs758288868
- gnomAD rs758288868
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.04
- CADD 19.10
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- Structural context available