R18S (p.Arg18Ser) variant of FTO (Q9C0B1)
R18S (p.Arg18Ser) in FTO (Q9C0B1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R18S (p.Arg18Ser) variant details
- p.Arg18Ser
- gnomAD 16-53810148-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.29
- MetaLR 0.13
- MetaSVM -0.95
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available