G12A (p.Gly12Ala) variant of NRAS (GTPase NRas)
G12A (p.Gly12Ala) in NRAS (GTPase NRas) 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; RASopathy; Colorectal cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- rs121913237
- ClinGen CA280928
- NCI-TCGA Cosmic COSV5473
- Pathogenic/Likely pathogenic
- Noonan syndrome and Noonan-related syndrome; RASopathy; Colorectal cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.69
- CADD 26.10
- PolyPhen-2 0.53
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Noonan syndrome and Noonan-related syndrome; RASopathy; Colorect)
- EBI: Pathogenic (in KNEN and JMML)
- UniProt: Pathogenic (in KNEN and JMML)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)