Q3E (p.Gln3Glu) variant of BMPR1A (P36894)
Q3E (p.Gln3Glu) 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 0.38 / 1. The record also includes published literature and structural context.
Q3E (p.Gln3Glu) variant details
- p.Gln3Glu
- rs1589757055
- ClinGen CA377774750
- ClinVar RCV000817603
- ClinVar RCV004949995
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- AlphaMissense 0.08
- MetaLR 0.33
- MetaSVM -0.59
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Juvenile polyposis synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)