G12S (p.Gly12Ser) variant of NRAS (GTPase NRas)
G12S (p.Gly12Ser) 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 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- rs121913250
- ClinGen CA180753
- NCI-TCGA Cosmic COSV5473
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.61
- AlphaMissense 1.00
- MetaLR 0.58
- MetaSVM 0.22
- CADD 24.90
- PolyPhen-2 0.68
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in KNEN and JMML)
- UniProt: Pathogenic (in KNEN and JMML)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)