R12K (p.Arg12Lys) variant of FAN1 (Fanconi-associated nuclease 1)
R12K (p.Arg12Lys) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R12K (p.Arg12Lys) variant details
- p.Arg12Lys
- rs752820596
- gnomAD 15-30904690-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 20.60
- Population evidence available
- Structural context available
- Literature evidence available