A77G (p.Ala77Gly) variant of RIT1 (GTP-binding protein Rit1)
A77G (p.Ala77Gly) 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 Cardiovascular phenotype; Noonan syndrome 8; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
A77G (p.Ala77Gly) variant details
- p.Ala77Gly
- rs1673399238
- ClinGen CA342803120
- ClinVar RCV001054701
- ClinVar RCV001683730
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Noonan syndrome 8; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- AlphaMissense 0.97
- MetaLR 0.84
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Noonan syndrome 8; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)