E8* (p.Glu8Ter) variant of FTO (Q9C0B1)
E8* (p.Glu8Ter) in FTO (Q9C0B1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E8* (p.Glu8Ter) variant details
- p.Glu8Ter
- gnomAD 16-53704206-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.872
- CADD 40.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available