Y42S (p.Tyr42Ser) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Y42S (p.Tyr42Ser) 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.
Y42S (p.Tyr42Ser) variant details
- p.Tyr42Ser
- gnomAD rs1416508252
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available