I19M (p.Ile19Met) variant of FAN1 (Fanconi-associated nuclease 1)
I19M (p.Ile19Met) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I19M (p.Ile19Met) variant details
- p.Ile19Met
- gnomAD 15-30904720-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.29
- CADD 9.08
- PolyPhen-2 0.06
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available