P58R (p.Pro58Arg) variant of BLM (RecQ-like DNA helicase BLM)
P58R (p.Pro58Arg) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes structural context.
P58R (p.Pro58Arg) variant details
- p.Pro58Arg
- TOPMed rs1895602282
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available