V22M (p.Val22Met) variant of SLC26A4 (Pendrin)
V22M (p.Val22Met) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
V22M (p.Val22Met) variant details
- p.Val22Met
- gnomAD 7-107661705-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.62
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.87
- MetaSVM 0.84
- CADD 25.50
- Population evidence available
- Structural context available
- Literature evidence available