D54N (p.Asp54Asn) variant of BMPR1A (P36894)
D54N (p.Asp54Asn) 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; Juvenile polyposis syndrome. The record also includes variant effect predictions, published literature, and structural context.
D54N (p.Asp54Asn) variant details
- p.Asp54Asn
- rs1843126765
- ClinGen CA377446759
- ClinVar RCV001317727
- ClinVar RCV001806115
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- Missense
- MetaLR 0.39
- MetaSVM -0.54
- PolyPhen-2 0.01
- SIFT 0.30
- MutPred 0.34
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Juvenile polyposis 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)