E23S (p.Glu23Ser) variant of BRCA1 (P38398)
E23S (p.Glu23Ser) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in BC and BROVCA1. The record also includes experimental measurements, published literature, and structural context.
E23S (p.Glu23Ser) variant details
- p.Glu23Ser
- rs2552278873
- ClinGen CA500131370
- ClinVar RCV002369477
- NCI-TCGA TCGA novel
- Pathogenic
- in BC and BROVCA1
- Missense
- EBI: Pathogenic (in BC and BROVCA1)
- UniProt: Pathogenic (in BC and BROVCA1)
- Structural context available
- BRCA1 SGE Exon 2 Replicate 2: score -0.941
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)