V26I (p.Val26Ile) variant of SLC26A4 (Pendrin)
V26I (p.Val26Ile) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V26I (p.Val26Ile) variant details
- p.Val26Ile
- TOPMed rs1361348463
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.57
- MetaSVM -0.40
- CADD 21.30
- Population evidence available
- Structural context available