A3E (p.Ala3Glu) variant of SLC26A4 (Pendrin)
A3E (p.Ala3Glu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD 7-107661649-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.50
- MetaSVM -0.26
- CADD 18.60
- Population evidence available
- Structural context available
- Literature evidence available