M1R (p.Met1Arg) variant of FH (P07954)
M1R (p.Met1Arg) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided; Fumarase deficiency. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1R (p.Met1Arg) variant details
- p.Met1Arg
- rs201261794
- ClinGen CA345443122
- ClinVar RCV000493638
- ClinVar RCV002524006
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Fumarase deficiency
- Missense
- MetaLR 0.97
- MetaSVM 1.06
- PolyPhen-2 0.72
- SIFT 0.00
- MutPred 0.61
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Fumarase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)