D40H (p.Asp40His) variant of BMPR1A (P36894)
D40H (p.Asp40His) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
D40H (p.Asp40His) variant details
- p.Asp40His
- rs587781556
- ClinGen CA377446492
- ClinVar RCV001010237
- ClinVar RCV001363982
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.16
- MetaLR 0.40
- MetaSVM -0.52
- PolyPhen-2 0.84
- SIFT 0.01
- MutPred 0.23
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing 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)