M1L (p.Met1Leu) variant of FH (P07954)
M1L (p.Met1Leu) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs776806414
- ClinGen CA1478787
- ClinVar RCV000794812
- ClinVar RCV002422699
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.32
- SIFT 0.01
- MutPred 0.62
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)