G144R (p.Gly144Arg) variant of BMPR1A (P36894)
G144R (p.Gly144Arg) 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 record also includes variant effect predictions, published literature, and structural context.
G144R (p.Gly144Arg) variant details
- p.Gly144Arg
- rs876658573
- ClinGen CA10578879
- ClinVar RCV000215661
- ClinVar RCV001365751
- Likely pathogenic
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- MetaLR 0.32
- MetaSVM -0.64
- PolyPhen-2 0.00
- SIFT 0.32
- MutPred 0.61
- ClinVar: Likely pathogenic (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)