V8G (p.Val8Gly) variant of RIT1 (GTP-binding protein Rit1)
V8G (p.Val8Gly) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome 8. The record also includes structural context.
V8G (p.Val8Gly) variant details
- p.Val8Gly
- TOPMed rs977203137
- Uncertain significance
- Noonan syndrome 8
- Missense
- ClinVar: Uncertain significance (Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available