G4R (p.Gly4Arg) variant of RIT1 (GTP-binding protein Rit1)
G4R (p.Gly4Arg) 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 not provided; Noonan syndrome 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
G4R (p.Gly4Arg) variant details
- p.Gly4Arg
- rs2102591257
- ClinGen CA342776568
- ClinVar RCV001937057
- ClinVar RCV006280837
- Uncertain significance
- not provided; Noonan syndrome 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- AlphaMissense 0.18
- MetaLR 0.07
- MetaSVM -1.03
- PolyPhen-2 0.91
- SIFT 0.00
- MutPred 0.32
- ClinVar: Uncertain significance (not provided; Noonan syndrome 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)