R12del (p.Arg12del) variant of FAN1 (Fanconi-associated nuclease 1)
R12del (p.Arg12del) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R12del (p.Arg12del) variant details
- gnomAD 15-30904695-AAAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 17.90
- Population evidence available
- Structural context available
- Literature evidence available