E58* (p.Glu58Ter) variant of SLC22A2 (O15244)
E58* (p.Glu58Ter) in SLC22A2 (O15244) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E58* (p.Glu58Ter) variant details
- p.Glu58Ter
- ESP rs138397321
- ExAC rs138397321
- TOPMed rs138397321
- gnomAD rs138397321
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.394
- CADD 34.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available