Y2N (p.Tyr2Asn) variant of FH (P07954)
Y2N (p.Tyr2Asn) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Y2N (p.Tyr2Asn) variant details
- p.Tyr2Asn
- rs112335468
- ClinGen CA345443117
- ClinVar RCV002547376
- ClinVar RCV004035857
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.34
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)