M1V (p.Met1Val) variant of FH (P07954)
M1V (p.Met1Val) 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; Fumarase deficiency; Hereditary leiomyomatosis and renal cell canc. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs776806414
- ClinGen CA10581788
- ClinVar RCV000498198
- ClinVar RCV002417984
- Conflicting interpretations
- not provided; Fumarase deficiency; Hereditary leiomyomatosis and renal cell canc
- Missense
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 0.32
- SIFT 0.01
- MutPred 0.62
- ClinVar: Conflicting classifications of pathogenicity (not provided; Fumarase deficiency; Hereditary leiomyomatosis and)
- 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)