R17G (p.Arg17Gly) variant of SLC18A2 (Q05940)
R17G (p.Arg17Gly) 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 0.72 / 1. The record also includes population frequency data and structural context.
R17G (p.Arg17Gly) variant details
- p.Arg17Gly
- ESP rs148348449
- ExAC rs148348449
- TOPMed rs148348449
- gnomAD rs148348449
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available