G17W (p.Gly17Trp) variant of RIT1 (GTP-binding protein Rit1)
G17W (p.Gly17Trp) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Noonan syndrome 8. The record also includes structural context.
G17W (p.Gly17Trp) variant details
- p.Gly17Trp
- cosmic curated COSV10468
- Uncertain significance
- Noonan syndrome 8
- Missense
- ClinVar: Uncertain significance (Noonan syndrome 8)
- UniProt: Uncertain significance
- Structural context available