D38E (p.Asp38Glu) variant of BMPR1A (P36894)
D38E (p.Asp38Glu) 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; not specified; Hereditary cancer-predisposing syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D38E (p.Asp38Glu) variant details
- p.Asp38Glu
- rs1021443408
- ClinGen CA211182733
- ClinVar RCV000573226
- ClinVar RCV000822318
- Uncertain significance
- Juvenile polyposis syndrome; not specified; Hereditary cancer-predisposing syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.19
- CADD 16.40
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; not specified; Hereditary cancer-pr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-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)