R24Q (p.Arg24Gln) variant of CEBPE (Q15744)
R24Q (p.Arg24Gln) 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 0.23 / 1. The record also includes population frequency data and structural context.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- rs747068325
- ClinGen CA257745575
- ClinVar RCV001296923
- ExAC rs747068325
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.03
- MetaSVM -1.04
- CADD 16.30
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available