C34S (p.Cys34Ser) variant of CEBPE (Q15744)
C34S (p.Cys34Ser) 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 0.31 / 1. The record also includes population frequency data and structural context.
C34S (p.Cys34Ser) variant details
- p.Cys34Ser
- rs376629444
- ClinGen CA7111294
- ClinVar RCV001051607
- ESP rs376629444
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.49
- MetaLR 0.07
- MetaSVM -1.05
- CADD 22.80
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.017)
- Structural context available