R116L (p.Arg116Leu) variant of SLC22A2 (O15244)
R116L (p.Arg116Leu) in SLC22A2 (O15244) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R116L (p.Arg116Leu) variant details
- p.Arg116Leu
- rs766277243
- ExAC rs766277243
- gnomAD rs766277243
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.20
- CADD 8.98
- PolyPhen-2 0.01
- SIFT 0.34
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 5.9e-05)
- Structural context available