C18* (p.Cys18Ter) variant of SLC26A4 (Pendrin)
C18* (p.Cys18Ter) in SLC26A4 (Pendrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
C18* (p.Cys18Ter) variant details
- p.Cys18Ter
- gnomAD rs1332549030
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 36.00
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available