S19A (p.Ser19Ala) variant of SLC26A4 (Pendrin)
S19A (p.Ser19Ala) in SLC26A4 (Pendrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S19A (p.Ser19Ala) variant details
- p.Ser19Ala
- rs1057516634
- gnomAD 7-107661695-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 25.80
- Population evidence available
- Structural context available
- Literature evidence available