V54A (p.Val54Ala) variant of BLM (RecQ-like DNA helicase BLM)
V54A (p.Val54Ala) in BLM (RecQ-like DNA helicase BLM) is a missense change. The record also includes structural context.
V54A (p.Val54Ala) variant details
- p.Val54Ala
- Ensembl rs2151146758
- Missense
- Structural context available