R43* (p.Arg43Ter) variant of FH (P07954)
R43* (p.Arg43Ter) in FH (P07954) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R43* (p.Arg43Ter) variant details
- p.Arg43Ter
- rs200496951
- ClinGen CA40337895
- ClinVar RCV001784418
- ClinVar RCV003467368
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- 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)