Q33S (p.Gln33Ser) variant of SLC26A4 (Pendrin)
Q33S (p.Gln33Ser) 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.
Q33S (p.Gln33Ser) variant details
- p.Gln33Ser
- gnomAD 7-107661736-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available