L4R (p.Leu4Arg) variant of RECQL4 (ATP-dependent DNA helicase Q4)
L4R (p.Leu4Arg) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
L4R (p.Leu4Arg) variant details
- p.Leu4Arg
- Ensembl rs2130746567
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available