E5D (p.Glu5Asp) variant of SLC47A1 (Q96FL8)
E5D (p.Glu5Asp) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E5D (p.Glu5Asp) variant details
- p.Glu5Asp
- gnomAD 17-19533954-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.07
- CADD 9.25
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available