A54G (p.Ala54Gly) variant of FTO (Q9C0B1)
A54G (p.Ala54Gly) in FTO (Q9C0B1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A54G (p.Ala54Gly) variant details
- p.Ala54Gly
- gnomAD 16-53825901-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.36
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available