E9D (p.Glu9Asp) variant of SLC26A4 (Pendrin)
E9D (p.Glu9Asp) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- gnomAD 7-107661668-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.52
- MetaSVM -0.38
- CADD 21.40
- Population evidence available
- Structural context available
- Literature evidence available