L15F (p.Leu15Phe) variant of BMPR1A (P36894)
L15F (p.Leu15Phe) 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 0.40 / 1. The record also includes published literature and structural context.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- rs2133321682
- ClinGen CA377774832
- ClinVar RCV001526241
- ClinVar RCV001873696
- Uncertain significance
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.14
- MetaLR 0.34
- MetaSVM -0.64
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.22
- ClinVar: Uncertain significance (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Likely benign
- UniProt: Likely benign
- 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)