L45F (p.Leu45Phe) variant of SOS2 (Son of sevenless homolog 2)
L45F (p.Leu45Phe) in SOS2 (Son of sevenless homolog 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Noonan syndrome 9. The record also includes structural context.
L45F (p.Leu45Phe) variant details
- p.Leu45Phe
- TOPMed rs1886595894
- Uncertain significance
- Noonan syndrome 9
- Missense
- ClinVar: Uncertain significance (Noonan syndrome 9)
- UniProt: Uncertain significance
- Structural context available