G60R (p.Gly60Arg) variant of KRAS (GTPase KRas)
G60R (p.Gly60Arg) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardio-facio-cutaneous syndrome. 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.
G60R (p.Gly60Arg) variant details
- p.Gly60Arg
- rs104894359
- ClinGen CA273416
- cosmic curated COSV55690
- ClinVar RCV000013416
- Pathogenic
- Cardio-facio-cutaneous syndrome
- 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 (Cardio-facio-cutaneous syndrome)
- EBI: Pathogenic (in CFC2)
- UniProt: Pathogenic (in CFC2)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.571
- Cited in: Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. (PMID 16474404)
- Cited in: Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. (PMID 20949621)