E53G (p.Glu53Gly) variant of BMPR1A (P36894)
E53G (p.Glu53Gly) 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. The record also includes variant effect predictions, published literature, and structural context.
E53G (p.Glu53Gly) variant details
- p.Glu53Gly
- rs1554888120
- ClinGen CA377446747
- ClinVar RCV000572940
- Ensembl rs1554888120
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MetaLR 0.41
- MetaSVM -0.43
- PolyPhen-2 0.13
- SIFT 0.11
- MutPred 0.31
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)