C124R (p.Cys124Arg) variant of BMPR1A (P36894)
C124R (p.Cys124Arg) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Polyposis syndrome, hered. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
C124R (p.Cys124Arg) variant details
- p.Cys124Arg
- rs199476087
- ClinGen CA194624
- ClinVar RCV000165949
- ClinVar RCV001797979
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Polyposis syndrome, hered
- 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: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Polyposis)
- EBI: Pathogenic (in JPS)
- UniProt: Pathogenic (in JPS)
- Structural context available
- Cited in: Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and… (PMID 11536076)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)