K67* (p.Lys67Ter) variant of SLC26A2 (Sulfate transporter)
K67* (p.Lys67Ter) in SLC26A2 (Sulfate transporter) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
K67* (p.Lys67Ter) variant details
- p.Lys67Ter
- ExAC rs766241120
- gnomAD rs766241120
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.545
- CADD 35.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available