D33Y (p.Asp33Tyr) variant of SLC18A2 (Q05940)
D33Y (p.Asp33Tyr) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
D33Y (p.Asp33Tyr) variant details
- p.Asp33Tyr
- gnomAD 10-117241790-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available