G12R (p.Gly12Arg) variant of KRAS (GTPase KRas)
G12R (p.Gly12Arg) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes experimental measurements, published literature, and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- rs121913530
- ClinGen CA122531
- cosmic curated COSV55497
- ClinVar RCV000013407
- Pathogenic/Likely pathogenic
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.45
- ClinVar: Pathogenic/Likely pathogenic (not provided; RASopathy)
- EBI: Pathogenic (in lung cancer and bladder cancer)
- UniProt: Pathogenic (in lung cancer and bladder cancer)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.217
- Cited in: Malignant activation of a K-ras oncogene in lung carcinoma but not in normal tissue of the same patient. (PMID 6695174)
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)