E2* (p.Glu2Ter) variant of SLC47A1 (Q96FL8)
E2* (p.Glu2Ter) in SLC47A1 (Q96FL8) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- gnomAD 17-19533943-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 34.00
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available