Y27Y (p.Tyr27Tyr) variant of SLC26A4 (Pendrin)
Y27Y (p.Tyr27Tyr) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
Y27Y (p.Tyr27Tyr) variant details
- p.Tyr27Tyr
- rs867562094
- gnomAD 7-107661722-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 22.20
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available