P30Q (p.Pro30Gln) variant of BLM (RecQ-like DNA helicase BLM)
P30Q (p.Pro30Gln) in BLM (RecQ-like DNA helicase BLM) is a missense change. The record also includes structural context.
P30Q (p.Pro30Gln) variant details
- p.Pro30Gln
- gnomAD rs1223618819
- Missense
- Structural context available