F82V (p.Phe82Val) variant of RIT1 (GTP-binding protein Rit1)
F82V (p.Phe82Val) 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; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
F82V (p.Phe82Val) variant details
- p.Phe82Val
- rs869025194
- ClinGen CA353883
- cosmic curated COSV10611
- ClinVar RCV000170492
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 1.00
- MetaLR 0.66
- MetaSVM 0.43
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.41
- ClinVar: Pathogenic (Noonan syndrome and Noonan-related syndrome; Cardiovascular phen)
- EBI: Pathogenic (found in patients with features of Noonan syndrome)
- UniProt: Pathogenic (found in patients with features of Noonan syndrome)
- 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)