D27Y (p.Asp27Tyr) variant of BMPR1A (P36894)
D27Y (p.Asp27Tyr) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
D27Y (p.Asp27Tyr) variant details
- p.Asp27Tyr
- rs1430886611
- ClinGen CA377446249
- ClinVar RCV000819692
- ClinVar RCV002415926
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Juvenile polyposis syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.59
- CADD 29.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Juvenile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)