I36M (p.Ile36Met) variant of KRAS (GTPase KRas)
I36M (p.Ile36Met) 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 Cardiovascular phenotype; Noonan syndrome; Cardio-facio-cutaneous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes experimental measurements, published literature, and structural context.
I36M (p.Ile36Met) variant details
- p.Ile36Met
- rs727503109
- ClinGen CA273162
- NCI-TCGA Cosmic COSV5572
- cosmic curated COSV55721
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Noonan syndrome; Cardio-facio-cutaneous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.68
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Noonan syndrome; Cardio-facio-cutaneou)
- EBI: Pathogenic (in NS3)
- UniProt: Pathogenic (in NS3)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.453
- Cited in: Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. (PMID 17056636)
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)