C49* (p.Cys49Ter) variant of SLC22A8 (Organic anion transporter 3)
C49* (p.Cys49Ter) in SLC22A8 (Organic anion transporter 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
C49* (p.Cys49Ter) variant details
- p.Cys49Ter
- gnomAD rs1160637590
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 24.80
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available