M195V (p.Met195Val) variant of FH (P07954)
M195V (p.Met195Val) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; not provided; Fumarase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
M195V (p.Met195Val) variant details
- p.Met195Val
- rs1553341364
- ClinGen CA345439454
- ClinVar RCV002358480
- ClinVar RCV002527733
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; not provided; Fumarase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.74
- CADD 24.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; not provided; Fumarase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- 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)