L17I (p.Leu17Ile) variant of FAN1 (Fanconi-associated nuclease 1)
L17I (p.Leu17Ile) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L17I (p.Leu17Ile) variant details
- p.Leu17Ile
- gnomAD 15-30904712-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.33
- CADD 23.90
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available