R12Q (p.Arg12Gln) variant of CEBPE (Q15744)
R12Q (p.Arg12Gln) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Specific granule deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R12Q (p.Arg12Gln) variant details
- p.Arg12Gln
- rs201106129
- ClinGen CA7111316
- ClinVar RCV001476858
- ClinVar RCV004749700
- Likely benign
- Specific granule deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.09
- MetaSVM -1.00
- CADD 23.30
- ClinVar: Likely benign (Specific granule deficiency; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available