G22R (p.Gly22Arg) variant of CEBPE (Q15744)
G22R (p.Gly22Arg) 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 0.30 / 1. The record also includes population frequency data and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- rs766209986
- ClinGen CA7111306
- ClinVar RCV002234212
- ExAC rs766209986
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.22
- MetaLR 0.09
- MetaSVM -0.98
- CADD 24.00
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available