L8R (p.Leu8Arg) variant of FH (P07954)
L8R (p.Leu8Arg) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The record also includes published literature and structural context.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- rs2527345676
- ClinGen CA345443057
- ClinVar RCV003177557
- ClinVar RCV006473866
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- ClinVar: Uncertain significance (not provided; 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)