P78L (p.Pro78Leu) variant of CEBPE (Q15744)
P78L (p.Pro78Leu) 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 0.27 / 1. The record also includes population frequency data and structural context.
P78L (p.Pro78Leu) variant details
- p.Pro78Leu
- TOPMed rs886224384
- gnomAD rs886224384
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.06
- MetaSVM -1.09
- CADD 22.60
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available