Y7F (p.Tyr7Phe) variant of BMPR1A (P36894)
Y7F (p.Tyr7Phe) 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 0.39 / 1. The record also includes published literature and structural context.
Y7F (p.Tyr7Phe) variant details
- p.Tyr7Phe
- rs993642453
- ClinGen CA377774780
- ClinVar RCV001178782
- Ensembl rs993642453
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.09
- MetaLR 0.33
- MetaSVM -0.54
- PolyPhen-2 0.00
- SIFT 0.21
- MutPred 0.35
- 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)