M1V (p.Met1Val) variant of BMPR1A (P36894)
M1V (p.Met1Val) 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 0.39 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs786203157
- ClinGen CA195612
- ClinVar RCV000166343
- ClinVar RCV002228592
- Uncertain significance
- 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: Uncertain significance (Juvenile polyposis syndrome)
- 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)