V60M (p.Val60Met) variant of CEBPE (Q15744)
V60M (p.Val60Met) 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 0.17 / 1. The record also includes population frequency data and structural context.
V60M (p.Val60Met) variant details
- p.Val60Met
- rs1376968968
- ClinGen CA388953636
- ClinVar RCV002639545
- TOPMed rs1376968968
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.03
- MetaSVM -1.04
- CADD 18.50
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available