V26A (p.Val26Ala) variant of SLC26A4 (Pendrin)
V26A (p.Val26Ala) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
V26A (p.Val26Ala) variant details
- p.Val26Ala
- TOPMed rs1436644787
- gnomAD rs1436644787
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.72
- MetaSVM 0.36
- CADD 23.50
- Population evidence available
- Structural context available