K49* (p.Lys49Ter) variant of FAN1 (Fanconi-associated nuclease 1)
K49* (p.Lys49Ter) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
K49* (p.Lys49Ter) variant details
- p.Lys49Ter
- gnomAD 15-30904808-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available