N857S (p.Asn857Ser) variant of ERBB2 (P04626)
N857S (p.Asn857Ser) in ERBB2 (P04626) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ovarian neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
N857S (p.Asn857Ser) variant details
- p.Asn857Ser
- rs28933370
- Civic 873
- ClinGen CA123601
- cosmic curated COSV54087
- Pathogenic
- Ovarian neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.12
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.10
- ClinVar: Pathogenic (Ovarian neoplasm)
- EBI: Pathogenic (in OC)
- UniProt: Pathogenic (in OC)
- Population evidence available
- 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)