A3V (p.Ala3Val) variant of BLM (RecQ-like DNA helicase BLM)
A3V (p.Ala3Val) in BLM (RecQ-like DNA helicase BLM) is a missense change. The record also includes structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- ExAC rs200399224
- gnomAD rs200399224
- Missense
- Structural context available