E9E (p.Glu9Glu) variant of SLC26A4 (Pendrin)
E9E (p.Glu9Glu) 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.
E9E (p.Glu9Glu) variant details
- p.Glu9Glu
- gnomAD 7-107661668-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 19.90
- Population evidence available
- Structural context available
- Literature evidence available