Q12* (p.Gln12Ter) variant of SLC26A4 (Pendrin)
Q12* (p.Gln12Ter) in SLC26A4 (Pendrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
Q12* (p.Gln12Ter) variant details
- p.Gln12Ter
- gnomAD 7-107661675-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 37.00
- Population evidence available
- Structural context available
- Literature evidence available