L59R (p.Leu59Arg) variant of SLC22A2 (O15244)
L59R (p.Leu59Arg) in SLC22A2 (O15244) 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.
L59R (p.Leu59Arg) variant details
- p.Leu59Arg
- gnomAD rs1249035003
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.50
- CADD 22.40
- PolyPhen-2 0.28
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available