S8S (p.Ser8Ser) variant of SLC26A4 (Pendrin)
S8S (p.Ser8Ser) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S8S (p.Ser8Ser) variant details
- p.Ser8Ser
- gnomAD 7-107661665-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 18.30
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Literature evidence available