E81G (p.Glu81Gly) variant of RIT1 (GTP-binding protein Rit1)
E81G (p.Glu81Gly) 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; Inborn genetic diseases; Noonan syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
E81G (p.Glu81Gly) variant details
- p.Glu81Gly
- rs869025193
- ClinGen CA353880
- ClinVar RCV000054405
- ClinVar RCV000207350
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; Inborn genetic diseases; Noonan syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- AlphaMissense 0.98
- MetaLR 0.65
- MetaSVM 0.50
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; Inborn genetic dise)
- 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: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)