Y7C (p.Tyr7Cys) variant of CEBPE (Q15744)
Y7C (p.Tyr7Cys) 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 0.23 / 1. The record also includes structural context.
Y7C (p.Tyr7Cys) variant details
- p.Tyr7Cys
- rs2501821392
- ClinGen CA388954332
- ClinVar RCV002611703
- Uncertain significance
- Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- ESM-1b 0.00
- AlphaMissense 0.48
- ClinVar: Uncertain significance (Specific granule deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available