R6G (p.Arg6Gly) variant of FH (P07954)
R6G (p.Arg6Gly) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fumarase deficiency; Hereditary cancer-predisposing syndrome. 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.
R6G (p.Arg6Gly) variant details
- p.Arg6Gly
- rs1660324018
- ClinGen CA345443082
- ClinVar RCV003339131
- ClinVar RCV004572947
- Uncertain significance
- Fumarase deficiency; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.60
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Fumarase deficiency; Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)