S39F (p.Ser39Phe) variant of BMPR1A (P36894)
S39F (p.Ser39Phe) 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; Polyposis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
S39F (p.Ser39Phe) variant details
- p.Ser39Phe
- rs876658859
- ClinGen CA10578873
- ClinVar RCV000223454
- ClinVar RCV000808348
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome; Polyposis
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.15
- MetaLR 0.30
- MetaSVM -0.72
- PolyPhen-2 0.21
- SIFT 0.04
- MutPred 0.15
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Juvenile polyposis 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)