E9Q (p.Glu9Gln) variant of SLC26A4 (Pendrin)
E9Q (p.Glu9Gln) in SLC26A4 (Pendrin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E9Q (p.Glu9Gln) variant details
- p.Glu9Gln
- ExAC rs758648839
- gnomAD rs758648839
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.52
- MetaSVM -0.37
- CADD 22.50
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available