G397R (p.Gly397Arg) variant of FH (P07954)
G397R (p.Gly397Arg) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
G397R (p.Gly397Arg) variant details
- p.Gly397Arg
- rs863224007
- ClinGen CA325330
- ClinVar RCV000200752
- ClinVar RCV000445595
- Pathogenic/Likely pathogenic
- Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.82
- CADD 23.60
- PolyPhen-2 0.38
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Fumarase deficiency; Hereditary leiomyomatosis and renal cell ca)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-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)