G4R (p.Gly4Arg) variant of CEBPE (Q15744)
G4R (p.Gly4Arg) 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 0.27 / 1. The record also includes population frequency data and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- rs545367685
- ClinGen CA7111322
- NCI-TCGA Cosmic COSV5282
- ClinVar RCV001364862
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.65
- MetaLR 0.04
- MetaSVM -1.04
- CADD 23.60
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00049)
- Structural context available