G60S (p.Gly60Ser) variant of KRAS (GTPase KRas)
G60S (p.Gly60Ser) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fetal anomalies with a likely genetic cause; Cardiofaciocutaneous syndrome 2; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes experimental measurements, published literature, and structural context.
G60S (p.Gly60Ser) variant details
- p.Gly60Ser
- rs104894359
- ClinGen CA256484
- cosmic curated COSV55849
- ClinVar RCV000013428
- Pathogenic
- Fetal anomalies with a likely genetic cause; Cardiofaciocutaneous syndrome 2; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic (Fetal anomalies with a likely genetic cause; Cardiofaciocutaneou)
- EBI: Pathogenic (in NS3)
- UniProt: Pathogenic (in NS3)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.571
- Cited in: Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. (PMID 19396835)
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)