E9G (p.Glu9Gly) variant of SLC26A4 (Pendrin)
E9G (p.Glu9Gly) in SLC26A4 (Pendrin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
E9G (p.Glu9Gly) variant details
- p.Glu9Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.54
- MetaSVM -0.24
- CADD 24.80
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available