G34A (p.Gly34Ala) variant of BMPR1A (P36894)
G34A (p.Gly34Ala) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of BMPR1A-related disorder; Juvenile polyposis syndrome; Hereditary cancer-predispo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
G34A (p.Gly34Ala) variant details
- p.Gly34Ala
- rs730881430
- ClinGen CA298505
- ClinVar RCV000159834
- ClinVar RCV000213466
- Uncertain significance
- BMPR1A-related disorder; Juvenile polyposis syndrome; Hereditary cancer-predispo
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.18
- AlphaMissense 0.15
- MetaLR 0.36
- MetaSVM -0.52
- CADD 22.90
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (BMPR1A-related disorder; Juvenile polyposis syndrome; Hereditary)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)