R9T (p.Arg9Thr) variant of BMPR1A (P36894)
R9T (p.Arg9Thr) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Juvenile polyposis syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R9T (p.Arg9Thr) variant details
- p.Arg9Thr
- rs766269417
- ClinGen CA5585406
- ClinVar RCV000523833
- ClinVar RCV002456005
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Juvenile polyposis syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.11
- MetaLR 0.28
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 0.33
- MutPred 0.39
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Juvenile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)