G28R (p.Gly28Arg) variant of CEBPE (Q15744)
G28R (p.Gly28Arg) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; 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, published literature, and structural context.
G28R (p.Gly28Arg) variant details
- p.Gly28Arg
- rs771346092
- ClinGen CA7111297
- ClinVar RCV001897573
- ClinVar RCV004611946
- Uncertain significance
- Inborn genetic diseases; Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.33
- MetaLR 0.08
- MetaSVM -1.06
- CADD 24.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)