G12R (p.Gly12Arg) variant of NRAS (GTPase NRas)
G12R (p.Gly12Arg) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Noonan syndrome 6; Increased nuchal translucency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- rs121913250
- ClinGen CA297030
- NCI-TCGA Cosmic COSV5473
- Pathogenic
- not provided; Noonan syndrome 6; Increased nuchal translucency
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- AlphaMissense 1.00
- MetaLR 0.58
- MetaSVM 0.22
- PolyPhen-2 0.68
- SIFT 0.07
- EVE 0.56
- ClinVar: Pathogenic (not provided; Noonan syndrome 6; Increased nuchal translucency)
- EBI: Pathogenic (in KNEN and JMML)
- UniProt: Pathogenic (in KNEN and JMML)
- Structural context available
- Cited in: Noonan Syndrome. (PMID 20301303)
- Cited in: Noonan syndrome: clinical features, diagnosis, and management guidelines. (PMID 20876176)