Y54* (p.Tyr54Ter) variant of FAN1 (Fanconi-associated nuclease 1)
Y54* (p.Tyr54Ter) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
Y54* (p.Tyr54Ter) variant details
- p.Tyr54Ter
- gnomAD rs1397244647
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.758
- CADD 26.20
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available