R19Q (p.Arg19Gln) variant of SLC18A2 (Q05940)
R19Q (p.Arg19Gln) 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.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- gnomAD rs1421913557
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 24.80
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available