R19L (p.Arg19Leu) variant of SLC18A2 (Q05940)
R19L (p.Arg19Leu) in SLC18A2 (Q05940) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- gnomAD 10-117241749-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 27.80
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available