Y2H (p.Tyr2His) variant of FH (P07954)
Y2H (p.Tyr2His) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Fumarase deficiency; Inherited phaeochromocytoma and paraganglioma excluding NF1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Y2H (p.Tyr2His) variant details
- p.Tyr2His
- rs112335468
- ClinGen CA1478785
- ClinVar RCV001023401
- ClinVar RCV001662540
- Conflicting interpretations
- Fumarase deficiency; Inherited phaeochromocytoma and paraganglioma excluding NF1
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.31
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (Fumarase deficiency; Inherited phaeochromocytoma and paraganglio)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)