K147E (p.Lys147Glu) variant of KRAS (GTPase KRas)
K147E (p.Lys147Glu) 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 Cardiofaciocutaneous syndrome 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes experimental measurements, published literature, and structural context.
K147E (p.Lys147Glu) variant details
- p.Lys147Glu
- rs387907206
- ClinGen CA279985
- cosmic curated COSV56097
- ClinVar RCV000024618
- Pathogenic/Likely pathogenic
- Cardiofaciocutaneous syndrome 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- AlphaMissense 0.99
- MetaLR 0.76
- MetaSVM 0.77
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic/Likely pathogenic (Cardiofaciocutaneous syndrome 2; not provided)
- EBI: Pathogenic (in CFC2)
- UniProt: Pathogenic (in CFC2)
- Structural context available
- binding fitness from KRAS-SOS1 bindingPCA of KRAS block3: score -0.148
- Cited in: Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. (PMID 21797849)
- Cited in: Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous… (PMID 23059812)