E6* (p.Glu6Ter) variant of SLC47A1 (Q96FL8)
E6* (p.Glu6Ter) in SLC47A1 (Q96FL8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E6* (p.Glu6Ter) variant details
- p.Glu6Ter
- gnomAD 17-19533955-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.41
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available