L42I (p.Leu42Ile) variant of CEBPE (Q15744)
L42I (p.Leu42Ile) 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.
L42I (p.Leu42Ile) variant details
- p.Leu42Ile
- rs762775546
- ClinGen CA7111288
- ClinVar RCV002034049
- ExAC rs762775546
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.12
- ESM-1b 0.27
- AlphaMissense 0.22
- MetaLR 0.03
- MetaSVM -1.07
- CADD 17.60
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available