P30L (p.Pro30Leu) variant of BLM (RecQ-like DNA helicase BLM)
P30L (p.Pro30Leu) 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.
P30L (p.Pro30Leu) variant details
- p.Pro30Leu
- cosmic curated COSV61926
- gnomAD rs1223618819
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Structural context available