M29I (p.Met29Ile) variant of BMPR1A (P36894)
M29I (p.Met29Ile) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
M29I (p.Met29Ile) variant details
- p.Met29Ile
- rs2133394364
- ClinGen CA377446293
- ClinVar RCV002373710
- ClinGen CA377446297
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- AlphaMissense 0.57
- MetaLR 0.35
- MetaSVM -0.44
- PolyPhen-2 0.01
- SIFT 0.02
- MutPred 0.29
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)