E5* (p.Glu5Ter) variant of SLC47A1 (Q96FL8)
E5* (p.Glu5Ter) in SLC47A1 (Q96FL8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E5* (p.Glu5Ter) variant details
- p.Glu5Ter
- 1000Genomes rs912701678
- TOPMed rs912701678
- gnomAD rs912701678
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 27.00
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available