R12L (p.Arg12Leu) variant of FTO (Q9C0B1)
R12L (p.Arg12Leu) in FTO (Q9C0B1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- gnomAD 16-53704219-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.26
- CADD 32.00
- PolyPhen-2 0.80
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available