K5E (p.Lys5Glu) variant of KRAS (GTPase KRas)
K5E (p.Lys5Glu) 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; not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K5E (p.Lys5Glu) variant details
- p.Lys5Glu
- rs193929331
- ClinGen CA250291
- NCI-TCGA Cosmic COSV5550
- cosmic curated COSV55502
- Pathogenic/Likely pathogenic
- KRAS-related disorder; not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.89
- AlphaMissense 0.99
- MetaLR 0.84
- MetaSVM 0.96
- CADD 27.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (KRAS-related disorder; not provided; RASopathy)
- EBI: Pathogenic (in NS3)
- UniProt: Pathogenic (in NS3)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.893
- Cited in: Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. (PMID 17468812)
- Cited in: The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. (PMID 18386799)