M1T (p.Met1Thr) variant of FH (P07954)
M1T (p.Met1Thr) 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.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs201261794
- ClinGen CA1478786
- ClinVar RCV001017952
- ClinVar RCV002551805
- 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: Likely pathogenic
- UniProt: Likely pathogenic
- 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)