Y2* (p.Tyr2Ter) variant of FH (P07954)
Y2* (p.Tyr2Ter) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Y2* (p.Tyr2Ter) variant details
- p.Tyr2Ter
- rs199971078
- ClinGen CA40338139
- ClinVar RCV000572622
- ClinVar RCV002461294
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.6e-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)