G95A (p.Gly95Ala) variant of RIT1 (GTP-binding protein Rit1)
G95A (p.Gly95Ala) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; Noonan sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
G95A (p.Gly95Ala) variant details
- p.Gly95Ala
- rs672601335
- ClinGen CA144538
- ClinVar RCV000054407
- ClinVar RCV000207348
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; Noonan sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.78
- MetaLR 0.56
- MetaSVM 0.13
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.12
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome; Cardiovascular phen)
- EBI: Pathogenic (in NS8)
- UniProt: Pathogenic (in NS8)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. (PMID 23791108)
- Cited in: Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of… (PMID 24939608)