E14V (p.Glu14Val) variant of SLC18A2 (Q05940)
E14V (p.Glu14Val) 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.
E14V (p.Glu14Val) variant details
- p.Glu14Val
- gnomAD 10-117241734-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 29.30
- PolyPhen-2 0.18
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available