C9G (p.Cys9Gly) variant of CEBPE (Q15744)
C9G (p.Cys9Gly) 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 0.25 / 1. The record also includes population frequency data and structural context.
C9G (p.Cys9Gly) variant details
- p.Cys9Gly
- rs942911403
- ClinGen CA257745614
- ClinVar RCV001237352
- gnomAD rs942911403
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.04
- MetaSVM -1.05
- CADD 20.80
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available