V51E (p.Val51Glu) variant of FAN1 (Fanconi-associated nuclease 1)
V51E (p.Val51Glu) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
V51E (p.Val51Glu) variant details
- p.Val51Glu
- gnomAD 15-30904815-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.80
- CADD 29.30
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available