E45G (p.Glu45Gly) variant of BMPR1A (P36894)
E45G (p.Glu45Gly) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E45G (p.Glu45Gly) variant details
- p.Glu45Gly
- rs1564714807
- ClinGen CA377446596
- ClinVar RCV000697948
- ClinVar RCV001183317
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.20
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Juvenile polyposis synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)