R12M (p.Arg12Met) variant of FAN1 (Fanconi-associated nuclease 1)
R12M (p.Arg12Met) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R12M (p.Arg12Met) variant details
- p.Arg12Met
- gnomAD 15-30904698-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.40
- CADD 23.30
- PolyPhen-2 0.73
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available