S18L (p.Ser18Leu) variant of SLC18A2 (Q05940)
S18L (p.Ser18Leu) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
S18L (p.Ser18Leu) variant details
- p.Ser18Leu
- 1000Genomes rs556880835
- ExAC rs556880835
- gnomAD rs556880835
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.01
- Population evidence available
- Structural context available