A44T (p.Ala44Thr) variant of CEBPE (Q15744)
A44T (p.Ala44Thr) 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 0.32 / 1. The record also includes population frequency data and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- rs200138272
- ClinGen CA7111286
- ClinVar RCV001204452
- ESP rs200138272
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.07
- MetaSVM -1.01
- CADD 23.50
- 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