E13* (p.Glu13Ter) variant of FTO (Q9C0B1)
E13* (p.Glu13Ter) in FTO (Q9C0B1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
E13* (p.Glu13Ter) variant details
- p.Glu13Ter
- rs2544857861
- ClinVar RCV004585211
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.872
- CADD 42.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available