T49I (p.Thr49Ile) variant of BMPR1A (P36894)
T49I (p.Thr49Ile) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions, published literature, and structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- rs1589763385
- ClinGen CA377446669
- ClinVar RCV001011755
- ClinVar RCV002549345
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- MetaLR 0.41
- MetaSVM -0.50
- PolyPhen-2 0.05
- SIFT 0.04
- MutPred 0.32
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)