D41N (p.Asp41Asn) variant of CEBPE (Q15744)
D41N (p.Asp41Asn) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar 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 0.58 / 1. The record also includes population frequency data and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- TOPMed rs1420124350
- gnomAD rs1420124350
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.42
- MetaSVM -0.09
- CADD 27.50
- ClinVar: Uncertain significance (Specific granule deficiency)
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available