R67G (p.Arg67Gly) variant of CEBPE (Q15744)
R67G (p.Arg67Gly) 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 0.15 / 1. The record also includes population frequency data and structural context.
R67G (p.Arg67Gly) variant details
- p.Arg67Gly
- rs750228203
- ClinGen CA7111270
- ClinVar RCV001364107
- ExAC rs750228203
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.05
- MetaSVM -1.04
- CADD 19.20
- 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