K5N (p.Lys5Asn) variant of KRAS (GTPase KRas)
K5N (p.Lys5Asn) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes experimental measurements, published literature, and structural context.
K5N (p.Lys5Asn) variant details
- p.Lys5Asn
- rs104894361
- ClinGen CA16042877
- cosmic curated COSV56027
- ClinVar RCV000413067
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- AlphaMissense 1.00
- MetaLR 0.73
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.39
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in GASC)
- UniProt: Pathogenic (in GASC)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.893
- Cited in: BRAF and KRAS mutations in stomach cancer. (PMID 14534542)
- Cited in: Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. (PMID 17056636)