G73R (p.Gly73Arg) variant of CEBPE (Q15744)
G73R (p.Gly73Arg) 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 0.32 / 1. The record also includes population frequency data and structural context.
G73R (p.Gly73Arg) variant details
- p.Gly73Arg
- rs556715943
- ClinGen CA7111263
- ClinVar RCV001037689
- 1000Genomes rs556715943
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.32
- MetaLR 0.12
- MetaSVM -1.03
- CADD 22.80
- ClinVar: Uncertain significance (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