H36Y (p.His36Tyr) variant of CEBPE (Q15744)
H36Y (p.His36Tyr) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
H36Y (p.His36Tyr) variant details
- p.His36Tyr
- ExAC rs780853765
- TOPMed rs780853765
- gnomAD rs780853765
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.05
- MetaSVM -1.06
- CADD 23.20
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.017)
- Structural context available