G47V (p.Gly47Val) variant of BMPR1A (P36894)
G47V (p.Gly47Val) 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 provided; Hereditary cancer-predisposing syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G47V (p.Gly47Val) variant details
- p.Gly47Val
- rs368595543
- ClinGen CA5585437
- ClinVar RCV000478286
- ClinVar RCV001059290
- Uncertain significance
- Juvenile polyposis syndrome; not provided; Hereditary cancer-predisposing syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.33
- CADD 24.20
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; not provided; Hereditary cancer-pre)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)