R19L (p.Arg19Leu) variant of SLC22A5 (O76082)
R19L (p.Arg19Leu) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- gnomAD 5-132370028-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.52
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available