V117L (p.Val117Leu) variant of SOS1 (Son of sevenless homolog 1)
V117L (p.Val117Leu) in SOS1 (Son of sevenless homolog 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; RASopathy. The record also includes structural context.
V117L (p.Val117Leu) variant details
- p.Val117Leu
- ExAC rs780406547
- gnomAD rs780406547
- Uncertain significance
- Cardiovascular phenotype; RASopathy
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype; RASopathy)
- UniProt: Uncertain significance
- Structural context available