A2E (p.Ala2Glu) variant of SLC26A4 (Pendrin)
A2E (p.Ala2Glu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 7-107661646-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.54
- MetaSVM -0.34
- CADD 17.50
- Population evidence available
- Structural context available
- Literature evidence available