E11A (p.Glu11Ala) variant of FTO (Q9C0B1)
E11A (p.Glu11Ala) in FTO (Q9C0B1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E11A (p.Glu11Ala) variant details
- p.Glu11Ala
- gnomAD 16-53704216-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.20
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available
- Literature evidence available