Y54F (p.Tyr54Phe) variant of FH (P07954)
Y54F (p.Tyr54Phe) 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 0.38 / 1. The record also includes population frequency data and structural context.
Y54F (p.Tyr54Phe) variant details
- p.Tyr54Phe
- TOPMed rs1270054582
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.41
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available