R3G (p.Arg3Gly) variant of FH (P07954)
R3G (p.Arg3Gly) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- rs202166344
- ClinGen CA319970
- ClinVar RCV000195609
- ClinVar RCV000204400
- Conflicting interpretations
- not specified; Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.42
- CADD 23.80
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hereditary cancer-predisposing syndrome; not prov)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.00037)
- 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)