T55A (p.Thr55Ala) variant of BMPR1A (P36894)
T55A (p.Thr55Ala) 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.
T55A (p.Thr55Ala) variant details
- p.Thr55Ala
- rs1843126824
- ClinGen CA377446775
- ClinVar RCV001234232
- ClinVar RCV002393590
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- MetaLR 0.29
- MetaSVM -0.64
- PolyPhen-2 0.00
- SIFT 0.79
- MutPred 0.45
- 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)