L69F (p.Leu69Phe) variant of CEBPE (Q15744)
L69F (p.Leu69Phe) 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; not provided; Specific granule deficiency 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L69F (p.Leu69Phe) variant details
- p.Leu69Phe
- rs146580935
- ClinGen CA7111267
- ClinVar RCV000636642
- ClinVar RCV003144408
- Uncertain significance
- Specific granule deficiency; not provided; Specific granule deficiency 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.05
- MetaSVM -1.08
- CADD 19.30
- ClinVar: Uncertain significance (Specific granule deficiency; not provided; Specific granule defi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available