R20Q (p.Arg20Gln) variant of RIT1 (GTP-binding protein Rit1)
R20Q (p.Arg20Gln) 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 variant effect predictions and structural context.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- cosmic curated COSV64167
- ExAC rs778233462
- gnomAD rs778233462
- Uncertain significance
- Noonan syndrome 8
- Missense
- SIFT 0.02
- ClinVar: Uncertain significance (Noonan syndrome 8)
- UniProt: Uncertain significance
- Structural context available