A3A (p.Ala3Ala) variant of SLC26A4 (Pendrin)
A3A (p.Ala3Ala) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs1790554387
- gnomAD 7-107661650-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 15.90
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available