E5E (p.Glu5Glu) variant of SLC47A1 (Q96FL8)
E5E (p.Glu5Glu) in SLC47A1 (Q96FL8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E5E (p.Glu5Glu) variant details
- p.Glu5Glu
- rs944316615
- gnomAD 17-19533954-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 7.16
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available
- Literature evidence available