E15G (p.Glu15Gly) variant of SLC26A4 (Pendrin)
E15G (p.Glu15Gly) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E15G (p.Glu15Gly) variant details
- p.Glu15Gly
- gnomAD 7-107661685-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.47
- MetaSVM -0.32
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available