C124S (p.Cys124Ser) variant of BMPR1A (P36894)
C124S (p.Cys124Ser) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.96 / 1. The record also includes published literature and structural context.
C124S (p.Cys124Ser) variant details
- p.Cys124Ser
- rs199476087
- ClinGen CA377449426
- ClinVar RCV002235580
- ClinVar RCV005782037
- Likely pathogenic
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.964
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- MutPred 0.94
- ClinVar: 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)