R53R (p.Arg53Arg) variant of FAN1 (Fanconi-associated nuclease 1)
R53R (p.Arg53Arg) in FAN1 (Fanconi-associated nuclease 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R53R (p.Arg53Arg) variant details
- p.Arg53Arg
- gnomAD 15-30904822-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.158
- CADD 10.90
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available