G4E (p.Gly4Glu) variant of RIT1 (GTP-binding protein Rit1)
G4E (p.Gly4Glu) in RIT1 (GTP-binding protein Rit1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome 8; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
G4E (p.Gly4Glu) variant details
- p.Gly4Glu
- rs2102591253
- ClinGen CA342776563
- ClinVar RCV001932288
- ClinVar RCV004656689
- Uncertain significance
- Noonan syndrome 8; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.26
- CADD 19.40
- PolyPhen-2 0.10
- SIFT 0.13
- ClinVar: Uncertain significance (Noonan syndrome 8; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)