G12V (p.Gly12Val) variant of NRAS (GTPase NRas)
G12V (p.Gly12Val) 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 Colorectal cancer; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- rs121913237
- ClinGen CA261525
- NCI-TCGA Cosmic COSV5473
- Pathogenic/Likely pathogenic
- Colorectal cancer; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.79
- CADD 26.50
- PolyPhen-2 0.45
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Colorectal cancer; not provided; RASopathy)
- 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)