M35I (p.Met35Ile) variant of BMPR1A (P36894)
M35I (p.Met35Ile) 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 0.42 / 1. The record also includes published literature and structural context.
M35I (p.Met35Ile) variant details
- p.Met35Ile
- rs1564714776
- Ensembl rs1564714776
- ClinGen CA377446403
- ClinVar RCV000772959
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 0.38
- MetaLR 0.36
- MetaSVM -0.45
- PolyPhen-2 0.14
- SIFT 0.05
- MutPred 0.16
- 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)