H3Q (p.His3Gln) variant of CEBPE (Q15744)
H3Q (p.His3Gln) 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 0.22 / 1. The record also includes population frequency data and structural context.
H3Q (p.His3Gln) variant details
- p.His3Gln
- rs769903476
- ClinGen CA388954381
- ClinVar RCV003830268
- ExAC rs769903476
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.02
- MetaSVM -1.05
- CADD 16.90
- 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