D40G (p.Asp40Gly) variant of BMPR1A (P36894)
D40G (p.Asp40Gly) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D40G (p.Asp40Gly) variant details
- p.Asp40Gly
- rs1060503403
- ClinGen CA377446498
- ClinVar RCV002234486
- ClinVar RCV002343238
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.21
- AlphaMissense 0.16
- MetaLR 0.37
- MetaSVM -0.75
- CADD 22.40
- PolyPhen-2 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Juvenile polyposis synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)