G12S (p.Gly12Ser) variant of KRAS (GTPase KRas)
G12S (p.Gly12Ser) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Vascular malformation; Cardiofaciocutaneous syndrome 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- rs121913530
- ClinGen CA135565
- cosmic curated COSV55497
- ClinVar RCV000013414
- Pathogenic
- Vascular malformation; Cardiofaciocutaneous syndrome 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.79
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.55
- CADD 26.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Vascular malformation; Cardiofaciocutaneous syndrome 2; not prov)
- EBI: Pathogenic (in GASC and JMML)
- UniProt: Pathogenic (in GASC and JMML)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.217
- Cited in: Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with… (PMID 16533793)
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)