L113S (p.Leu113Ser) variant of SOS1 (Son of sevenless homolog 1)
L113S (p.Leu113Ser) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The record also includes structural context.
L113S (p.Leu113Ser) variant details
- p.Leu113Ser
- rs2465361064
- ClinGen CA346373791
- ClinVar RCV003021819
- Uncertain significance
- RASopathy
- Missense
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available