E14* (p.Glu14Ter) variant of SLC22A2 (O15244)
E14* (p.Glu14Ter) in SLC22A2 (O15244) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E14* (p.Glu14Ter) variant details
- p.Glu14Ter
- TOPMed rs1220789527
- gnomAD rs1220789527
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available