E5G (p.Glu5Gly) variant of SLC18A2 (Q05940)
E5G (p.Glu5Gly) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
E5G (p.Glu5Gly) variant details
- p.Glu5Gly
- gnomAD 10-117241707-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 25.10
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available