G31R (p.Gly31Arg) variant of RIT1 (GTP-binding protein Rit1)
G31R (p.Gly31Arg) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Noonan syndrome 1; Noonan syndrome 8; RIT1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G31R (p.Gly31Arg) variant details
- p.Gly31Arg
- rs1571999498
- ClinGen CA342776221
- ClinVar RCV000856810
- ClinVar RCV003396492
- Pathogenic/Likely pathogenic
- Noonan syndrome 1; Noonan syndrome 8; RIT1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.66
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome 1; Noonan syndrome 8; RIT1-related disorder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)