C122* (p.Cys122Ter) variant of SLC22A2 (O15244)
C122* (p.Cys122Ter) in SLC22A2 (O15244) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
C122* (p.Cys122Ter) variant details
- p.Cys122Ter
- Ensembl rs2114875012
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.269
- CADD 26.60
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available