Y27* (p.Tyr27Ter) variant of SLC26A4 (Pendrin)
Y27* (p.Tyr27Ter) in SLC26A4 (Pendrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y27* (p.Tyr27Ter) variant details
- p.Tyr27Ter
- gnomAD rs867562094
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 38.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available