E2E (p.Glu2Glu) variant of SLC47A1 (Q96FL8)
E2E (p.Glu2Glu) in SLC47A1 (Q96FL8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E2E (p.Glu2Glu) variant details
- p.Glu2Glu
- rs2152311164
- gnomAD 17-19533945-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 8.70
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available