Y16* (p.Tyr16Ter) variant of SLC26A4 (Pendrin)
Y16* (p.Tyr16Ter) in SLC26A4 (Pendrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Y16* (p.Tyr16Ter) variant details
- p.Tyr16Ter
- gnomAD 7-107661689-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 34.00
- Population evidence available
- Structural context available
- Literature evidence available