E5D (p.Glu5Asp) variant of SLC18A2 (Q05940)
E5D (p.Glu5Asp) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E5D (p.Glu5Asp) variant details
- p.Glu5Asp
- gnomAD 10-117241708-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available