D56N (p.Asp56Asn) variant of CEBPE (Q15744)
D56N (p.Asp56Asn) 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 0.51 / 1. The record also includes population frequency data and structural context.
D56N (p.Asp56Asn) variant details
- p.Asp56Asn
- rs371734898
- ClinGen CA7111278
- ClinVar RCV001236343
- ESP rs371734898
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.30
- ESM-1b 0.96
- AlphaMissense 0.64
- MetaLR 0.21
- MetaSVM -0.64
- CADD 25.80
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0097)
- Structural context available