R12S (p.Arg12Ser) variant of FAN1 (Fanconi-associated nuclease 1)
R12S (p.Arg12Ser) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R12S (p.Arg12Ser) variant details
- p.Arg12Ser
- gnomAD 15-30904699-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.46
- CADD 21.80
- PolyPhen-2 0.26
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available