A7E (p.Ala7Glu) variant of SLC18A2 (Q05940)
A7E (p.Ala7Glu) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- gnomAD 10-117241713-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 20.90
- PolyPhen-2 0.04
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available