R18K (p.Arg18Lys) variant of FTO (Q9C0B1)
R18K (p.Arg18Lys) in FTO (Q9C0B1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R18K (p.Arg18Lys) variant details
- p.Arg18Lys
- gnomAD 16-53810147-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.14
- MetaLR 0.06
- MetaSVM -1.04
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available