I19A (p.Ile19Ala) variant of FAN1 (Fanconi-associated nuclease 1)
I19A (p.Ile19Ala) in FAN1 (Fanconi-associated nuclease 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I19A (p.Ile19Ala) variant details
- p.Ile19Ala
- gnomAD 15-30904713-TATCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.619
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available