D70E (p.Asp70Glu) variant of BLM (RecQ-like DNA helicase BLM)
D70E (p.Asp70Glu) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
D70E (p.Asp70Glu) variant details
- p.Asp70Glu
- Ensembl rs2151146852
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available