M1L (p.Met1Leu) variant of BMPR1A (P36894)
M1L (p.Met1Leu) in BMPR1A (P36894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs786203157
- ClinGen CA377774739
- ClinVar RCV000492794
- ClinVar RCV003335404
- Pathogenic/Likely pathogenic
- Juvenile polyposis syndrome; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- MetaLR 0.39
- MetaSVM -0.39
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.97
- ClinVar: Pathogenic/Likely pathogenic (Juvenile polyposis syndrome; Hereditary cancer-predisposing synd)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)