D54V (p.Asp54Val) variant of BMPR1A (P36894)
D54V (p.Asp54Val) 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.
D54V (p.Asp54Val) variant details
- p.Asp54Val
- rs1554888124
- ClinGen CA377446765
- ClinVar RCV001805767
- ClinVar RCV002233993
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- Missense
- MetaLR 0.38
- MetaSVM -0.50
- PolyPhen-2 0.13
- SIFT 0.16
- MutPred 0.43
- 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)