E15S (p.Glu15Ser) variant of SLC26A4 (Pendrin)
E15S (p.Glu15Ser) in SLC26A4 (Pendrin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E15S (p.Glu15Ser) variant details
- p.Glu15Ser
- rs1562817224
- gnomAD 7-107661679-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 24.20
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available