R17R (p.Arg17Arg) variant of SLC18A2 (Q05940)
R17R (p.Arg17Arg) in SLC18A2 (Q05940) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R17R (p.Arg17Arg) variant details
- p.Arg17Arg
- rs543593869
- gnomAD 10-117241744-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 20.90
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available
- Literature evidence available