C9Y (p.Cys9Tyr) variant of CEBPE (Q15744)
C9Y (p.Cys9Tyr) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar 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 0.27 / 1. The record also includes population frequency data and structural context.
C9Y (p.Cys9Tyr) variant details
- p.Cys9Tyr
- gnomAD rs2048525298
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.02
- MetaSVM -1.04
- CADD 17.30
- ClinVar: Uncertain significance (Specific granule deficiency)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available