G32D (p.Gly32Asp) variant of BMPR1A (P36894)
G32D (p.Gly32Asp) 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; Juvenile polyposis syndrome. 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.
G32D (p.Gly32Asp) variant details
- p.Gly32Asp
- rs1843125149
- ClinGen CA377446339
- ClinVar RCV001315956
- ClinVar RCV004951509
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.33
- CADD 23.90
- PolyPhen-2 0.56
- SIFT 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Juvenile polyposis synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)