R119C (p.Arg119Cys) variant of BMPR1A (P36894)
R119C (p.Arg119Cys) 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; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R119C (p.Arg119Cys) variant details
- p.Arg119Cys
- rs587782494
- ClinGen CA168480
- ClinVar RCV000131622
- ClinVar RCV000757030
- Pathogenic/Likely pathogenic
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.951
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.88
- ClinVar: Pathogenic/Likely pathogenic (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Juvenile Polyposis Syndrome. (PMID 20301642)