R6P (p.Arg6Pro) variant of FH (P07954)
R6P (p.Arg6Pro) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The record also includes published literature and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- rs2527345698
- ClinGen CA345443078
- ClinVar RCV003731926
- ClinVar RCV005844294
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- 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)