P30R (p.Pro30Arg) variant of BLM (RecQ-like DNA helicase BLM)
P30R (p.Pro30Arg) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
P30R (p.Pro30Arg) variant details
- p.Pro30Arg
- NCI-TCGA Cosmic COSV6192
- cosmic curated COSV61922
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available