E8K (p.Glu8Lys) variant of FTO (Q9C0B1)
E8K (p.Glu8Lys) in FTO (Q9C0B1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- cosmic curated COSV50907
- ExAC rs778741837
- TOPMed rs778741837
- gnomAD rs778741837
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.24
- CADD 23.80
- PolyPhen-2 0.12
- SIFT 0.27
- Most common in the REMAINING population (allele frequency 5.2e-05)
- Structural context available