D40N (p.Asp40Asn) variant of BMPR1A (P36894)
D40N (p.Asp40Asn) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
D40N (p.Asp40Asn) variant details
- p.Asp40Asn
- rs587781556
- ClinGen CA164691
- ClinVar RCV000129572
- ClinVar RCV000464702
- Conflicting interpretations
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome; not provid
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.09
- AlphaMissense 0.16
- MetaLR 0.40
- MetaSVM -0.52
- CADD 15.80
- PolyPhen-2 0.84
- ClinVar: Conflicting classifications of pathogenicity (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)