F71V (p.Phe71Val) variant of BLM (RecQ-like DNA helicase BLM)
F71V (p.Phe71Val) in BLM (RecQ-like DNA helicase BLM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
F71V (p.Phe71Val) variant details
- p.Phe71Val
- Ensembl rs2151146855
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available