D33E (p.Asp33Glu) variant of SLC18A2 (Q05940)
D33E (p.Asp33Glu) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D33E (p.Asp33Glu) variant details
- p.Asp33Glu
- gnomAD 10-117241792-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- CADD 25.90
- PolyPhen-2 0.94
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available