Q34* (p.Gln34Ter) variant of SLC26A4 (Pendrin)
Q34* (p.Gln34Ter) in SLC26A4 (Pendrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Q34* (p.Gln34Ter) variant details
- p.Gln34Ter
- gnomAD rs999138325
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available