H36N (p.His36Asn) variant of CEBPE (Q15744)
H36N (p.His36Asn) 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.
H36N (p.His36Asn) variant details
- p.His36Asn
- ExAC rs780853765
- TOPMed rs780853765
- gnomAD rs780853765
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -1.02
- CADD 17.60
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available