S23S (p.Ser23Ser) variant of SLC26A4 (Pendrin)
S23S (p.Ser23Ser) 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.
S23S (p.Ser23Ser) variant details
- p.Ser23Ser
- gnomAD 7-107661710-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.447
- CADD 15.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available