L119R (p.Leu119Arg) variant of SLC22A2 (O15244)
L119R (p.Leu119Arg) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L119R (p.Leu119Arg) variant details
- p.Leu119Arg
- Ensembl rs1049671629
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.47
- CADD 23.30
- PolyPhen-2 0.51
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.0004)
- Structural context available