E8K (p.Glu8Lys) variant of CEBPE (Q15744)
E8K (p.Glu8Lys) 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 0.30 / 1. The record also includes population frequency data and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- rs780505713
- ClinGen CA7111318
- ClinVar RCV001316978
- ExAC rs780505713
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.86
- MetaLR 0.08
- MetaSVM -0.95
- CADD 23.80
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available