E8R (p.Glu8Arg) variant of FTO (Q9C0B1)
E8R (p.Glu8Arg) in FTO (Q9C0B1) is a protein-truncating 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.
E8R (p.Glu8Arg) variant details
- p.Glu8Arg
- gnomAD 16-53704203-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 24.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available