E15D (p.Glu15Asp) variant of SLC26A4 (Pendrin)
E15D (p.Glu15Asp) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E15D (p.Glu15Asp) variant details
- p.Glu15Asp
- gnomAD 7-107661686-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.52
- MetaSVM -0.34
- CADD 18.90
- Population evidence available
- Structural context available
- Literature evidence available