E914K (p.Glu914Lys) variant of ERBB2 (P04626)
E914K (p.Glu914Lys) in ERBB2 (P04626) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glioma susceptibility 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
E914K (p.Glu914Lys) variant details
- p.Glu914Lys
- rs28933368
- ClinGen CA123594
- cosmic curated COSV54084
- ClinVar RCV000014892
- Pathogenic
- Glioma susceptibility 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.87
- ClinVar: Pathogenic (Glioma susceptibility 1)
- EBI: Pathogenic (in GLM)
- UniProt: Pathogenic (in GLM)
- Structural context available
- Cited in: Lung cancer: intragenic ERBB2 kinase mutations in tumours. (PMID 15457249)