R43G (p.Arg43Gly) variant of FH (P07954)
R43G (p.Arg43Gly) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided; Fumarase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R43G (p.Arg43Gly) variant details
- p.Arg43Gly
- rs200496951
- ClinGen CA345442626
- ClinVar RCV000537507
- ClinVar RCV002384077
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided; Fumarase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.45
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided; Fumarase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00025)
- 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)