E15Q (p.Glu15Gln) variant of SLC26A4 (Pendrin)
E15Q (p.Glu15Gln) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
E15Q (p.Glu15Gln) variant details
- p.Glu15Gln
- gnomAD 7-107661684-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.48
- MetaSVM -0.25
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available