L53F (p.Leu53Phe) variant of CEBPE (Q15744)
L53F (p.Leu53Phe) 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 0.25 / 1. The record also includes population frequency data and structural context.
L53F (p.Leu53Phe) variant details
- p.Leu53Phe
- rs1303931802
- ClinGen CA388953727
- ClinVar RCV003041807
- TOPMed rs1303931802
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.03
- MetaSVM -1.08
- CADD 17.40
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available