C18A (p.Cys18Ala) variant of SLC26A4 (Pendrin)
C18A (p.Cys18Ala) in SLC26A4 (Pendrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
C18A (p.Cys18Ala) variant details
- p.Cys18Ala
- rs1316161028
- gnomAD 7-107661692-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 22.40
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Literature evidence available