F58Y (p.Phe58Tyr) variant of BMPR1A (P36894)
F58Y (p.Phe58Tyr) 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 record also includes variant effect predictions, published literature, and structural context.
F58Y (p.Phe58Tyr) variant details
- p.Phe58Tyr
- rs1843127298
- ClinGen CA377446864
- NCI-TCGA Cosmic COSV6313
- ClinVar RCV001182337
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MetaLR 0.63
- MetaSVM 0.27
- PolyPhen-2 0.98
- SIFT 0.10
- EVE 0.07
- MutPred 0.57
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance (in a renal clear cell carcinoma sample)
- UniProt: Uncertain significance (in a renal clear cell carcinoma sample)
- Structural context available
- Cited in: Patterns of somatic mutation in human cancer genomes. (PMID 17344846)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)