R17S (p.Arg17Ser) variant of SLC18A2 (Q05940)
R17S (p.Arg17Ser) in SLC18A2 (Q05940) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R17S (p.Arg17Ser) variant details
- p.Arg17Ser
- ESP rs148348449
- ExAC rs148348449
- TOPMed rs148348449
- gnomAD rs148348449
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available