Q33Q (p.Gln33Gln) variant of SLC26A4 (Pendrin)
Q33Q (p.Gln33Gln) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q33Q (p.Gln33Gln) variant details
- p.Gln33Gln
- rs967911628
- gnomAD 7-107661740-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.429
- CADD 22.10
- Population evidence available
- Structural context available
- Literature evidence available