I8S (p.Ile8Ser) variant of BMPR1A (P36894)
I8S (p.Ile8Ser) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
I8S (p.Ile8Ser) variant details
- p.Ile8Ser
- rs2539350498
- ClinGen CA377774787
- ClinVar RCV002430672
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)