E6D (p.Glu6Asp) variant of SLC47A1 (Q96FL8)
E6D (p.Glu6Asp) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
E6D (p.Glu6Asp) variant details
- p.Glu6Asp
- gnomAD 17-19533957-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0822
- REVEL 0.05
- CADD 8.17
- PolyPhen-2 0.12
- SIFT 0.32
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available