G776S (p.Gly776Ser) variant of ERBB2 (P04626)
G776S (p.Gly776Ser) in ERBB2 (P04626) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Gastric cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
G776S (p.Gly776Ser) variant details
- p.Gly776Ser
- rs28933369
- ClinGen CA210550
- NCI-TCGA Cosmic COSV5406
- Pathogenic
- Gastric cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.16
- MetaLR 0.39
- MetaSVM -0.48
- PolyPhen-2 1.00
- SIFT 1.00
- MutPred 0.35
- ClinVar: Pathogenic (Gastric cancer)
- EBI: Pathogenic (in GASC)
- UniProt: Pathogenic (in GASC)
- Structural context available
- Cited in: Lung cancer: intragenic ERBB2 kinase mutations in tumours. (PMID 15457249)
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)