G34R (p.Gly34Arg) variant of BMPR1A (P36894)
G34R (p.Gly34Arg) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Polyposis syndrome, hereditary mixed, 2; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- rs1589763328
- ClinGen CA377446366
- ClinVar RCV001175943
- ClinVar RCV002234809
- Uncertain significance
- Polyposis syndrome, hereditary mixed, 2; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.37
- AlphaMissense 0.25
- MetaLR 0.45
- MetaSVM -0.19
- CADD 24.50
- PolyPhen-2 0.39
- ClinVar: Uncertain significance (Polyposis syndrome, hereditary mixed, 2; Hereditary cancer-predi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- 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)