F18V (p.Phe18Val) variant of RECQL4 (ATP-dependent DNA helicase Q4)
F18V (p.Phe18Val) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
F18V (p.Phe18Val) variant details
- p.Phe18Val
- TOPMed rs941281893
- gnomAD rs941281893
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available