C122R (p.Cys122Arg) variant of SLC22A2 (O15244)
C122R (p.Cys122Arg) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
C122R (p.Cys122Arg) variant details
- p.Cys122Arg
- ExAC rs767010128
- TOPMed rs767010128
- gnomAD rs767010128
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.94
- CADD 25.40
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available