Q40K (p.Gln40Lys) variant of FTO (Q9C0B1)
Q40K (p.Gln40Lys) in FTO (Q9C0B1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q40K (p.Gln40Lys) variant details
- p.Gln40Lys
- gnomAD 16-53810212-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.35
- MetaLR 0.43
- MetaSVM -0.09
- CADD 25.10
- PolyPhen-2 0.70
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available