G60E (p.Gly60Glu) variant of NRAS (GTPase NRas)
G60E (p.Gly60Glu) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G60E (p.Gly60Glu) variant details
- p.Gly60Glu
- rs267606920
- ClinGen CA257021
- NCI-TCGA Cosmic COSV5473
- NCI-TCGA Cosmic COSV5474
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.96
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in NS6)
- UniProt: Pathogenic (in NS6)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: A restricted spectrum of NRAS mutations causes Noonan syndrome. (PMID 19966803)
- Cited in: Mutation in NRAS in familial Noonan syndrome--case report and review of the literature. (PMID 26467218)