S4R (p.Ser4Arg) variant of SLC18A2 (Q05940)
S4R (p.Ser4Arg) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- gnomAD 10-117241705-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.99
- Population evidence available
- Structural context available
- Literature evidence available