G47E (p.Gly47Glu) variant of BMPR1A (P36894)
G47E (p.Gly47Glu) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G47E (p.Gly47Glu) variant details
- p.Gly47Glu
- rs368595543
- ClinGen CA196132
- ClinVar RCV000166542
- ClinVar RCV001358778
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.35
- CADD 23.90
- PolyPhen-2 0.36
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Juvenile polyposis synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)