A76V (p.Ala76Val) variant of CEBPE (Q15744)
A76V (p.Ala76Val) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Specific granule deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
A76V (p.Ala76Val) variant details
- p.Ala76Val
- rs1370239075
- ClinGen CA388953482
- ClinVar RCV002851187
- TOPMed rs1370239075
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.07
- CADD 22.10
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0086)
- Structural context available