C18C (p.Cys18Cys) variant of SLC26A4 (Pendrin)
C18C (p.Cys18Cys) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
C18C (p.Cys18Cys) variant details
- p.Cys18Cys
- gnomAD 7-107661695-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 18.10
- Population evidence available
- Structural context available
- Literature evidence available