R3* (p.Arg3Ter) variant of FH (P07954)
R3* (p.Arg3Ter) in FH (P07954) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R3* (p.Arg3Ter) variant details
- p.Arg3Ter
- rs202166344
- ClinGen CA321335
- ClinVar RCV000196918
- ClinVar RCV002415845
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-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)