E35K (p.Glu35Lys) variant of CEBPE (Q15744)
E35K (p.Glu35Lys) 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 0.31 / 1. The record also includes population frequency data and structural context.
E35K (p.Glu35Lys) variant details
- p.Glu35Lys
- ExAC rs752255768
- gnomAD rs752255768
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.75
- MetaLR 0.08
- MetaSVM -1.02
- CADD 24.30
- ClinVar: Uncertain significance (Specific granule deficiency)
- UniProt: Uncertain significance
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available