G32R (p.Gly32Arg) variant of BMPR1A (P36894)
G32R (p.Gly32Arg) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Juvenile polyposis syndrome; Polyposis syndrome, hereditary mixed, 2; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- rs755462552
- ClinGen CA5585430
- ClinVar RCV000461457
- ClinVar RCV000522769
- Conflicting interpretations
- Juvenile polyposis syndrome; Polyposis syndrome, hereditary mixed, 2; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.29
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (Juvenile polyposis syndrome; Polyposis syndrome, hereditary mixe)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)