E13Q (p.Glu13Gln) variant of FTO (Q9C0B1)
E13Q (p.Glu13Gln) in FTO (Q9C0B1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E13Q (p.Glu13Gln) variant details
- p.Glu13Gln
- gnomAD 16-53704221-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.23
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available