E29E (p.Glu29Glu) variant of SLC26A4 (Pendrin)
E29E (p.Glu29Glu) in SLC26A4 (Pendrin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
E29E (p.Glu29Glu) variant details
- p.Glu29Glu
- gnomAD 7-107661728-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 19.90
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Literature evidence available