S8* (p.Ser8Ter) variant of SLC26A4 (Pendrin)
S8* (p.Ser8Ter) in SLC26A4 (Pendrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S8* (p.Ser8Ter) variant details
- p.Ser8Ter
- gnomAD 7-107661664-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available