R16C (p.Arg16Cys) variant of SLC18A2 (Q05940)
R16C (p.Arg16Cys) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R16C (p.Arg16Cys) variant details
- p.Arg16Cys
- TOPMed rs1297159176
- gnomAD rs1297159176
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 25.10
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available