G13C (p.Gly13Cys) variant of KRAS (GTPase KRas)
G13C (p.Gly13Cys) 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 KRAS-related disorder; Autoimmune lymphoproliferative syndrome type 4; not provi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes experimental measurements, published literature, and structural context.
G13C (p.Gly13Cys) variant details
- p.Gly13Cys
- rs121913535
- ClinGen CA135570
- cosmic curated COSV55497
- ClinVar RCV000038268
- Pathogenic/Likely pathogenic
- KRAS-related disorder; Autoimmune lymphoproliferative syndrome type 4; not provi
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- AlphaMissense 1.00
- MetaLR 0.77
- MetaSVM 0.69
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.31
- ClinVar: Pathogenic/Likely pathogenic (KRAS-related disorder; Autoimmune lymphoproliferative syndrome t)
- EBI: Pathogenic (in pylocytic astrocytoma)
- UniProt: Pathogenic (in pylocytic astrocytoma)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.346
- Cited in: Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. (PMID 21079152)
- Cited in: Guideline Recommendations for EGFR Mutation Testing in Lung Cancer: Proposal of the Korean Cardiopulmonary Pathology… (PMID 23667368)