C124Y (p.Cys124Tyr) variant of BMPR1A (P36894)
C124Y (p.Cys124Tyr) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
C124Y (p.Cys124Tyr) variant details
- p.Cys124Tyr
- rs587782388
- ClinGen CA168082
- ClinVar RCV000131396
- ClinVar RCV001857461
- Pathogenic/Likely pathogenic
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- MutPred 0.96
- ClinVar: Pathogenic/Likely pathogenic (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Pathogenic (in JPS)
- UniProt: Pathogenic (in JPS)
- 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)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)