Y2C (p.Tyr2Cys) variant of FH (P07954)
Y2C (p.Tyr2Cys) 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; not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Y2C (p.Tyr2Cys) variant details
- p.Tyr2Cys
- rs1553342167
- ClinGen CA345443111
- ClinVar RCV002358784
- ClinVar RCV002529839
- Conflicting interpretations
- Fumarase deficiency; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.48
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (Fumarase deficiency; not provided; Hereditary cancer-predisposin)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-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)