F58L (p.Phe58Leu) variant of BMPR1A (P36894)
F58L (p.Phe58Leu) 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 published literature and structural context.
F58L (p.Phe58Leu) variant details
- p.Phe58Leu
- rs2539432228
- ClinGen CA377446848
- ClinVar RCV002407411
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- 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: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)