A57G (p.Ala57Gly) variant of RIT1 (GTP-binding protein Rit1)
A57G (p.Ala57Gly) 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 and Noonan-related syndrome; Cardiovascular phenotype; RIT1-rela. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
A57G (p.Ala57Gly) variant details
- p.Ala57Gly
- rs672601334
- ClinGen CA144537
- cosmic curated COSV64170
- ClinVar RCV000054404
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; Cardiovascular phenotype; RIT1-rela
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.79
- MetaLR 0.52
- MetaSVM 0.14
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.42
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; Cardiovascular phen)
- EBI: Pathogenic (in NS8)
- UniProt: Pathogenic (in NS8)
- Structural context available
- Cited in: Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. (PMID 23791108)
- Cited in: Further evidence of the importance of RIT1 in Noonan syndrome. (PMID 25124994)