R53* (p.Arg53Ter) variant of FAN1 (Fanconi-associated nuclease 1)
R53* (p.Arg53Ter) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R53* (p.Arg53Ter) variant details
- p.Arg53Ter
- rs1414561356
- gnomAD 15-30904818-C-CT
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 24.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available