V22L (p.Val22Leu) variant of SLC26A4 (Pendrin)
V22L (p.Val22Leu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
V22L (p.Val22Leu) variant details
- p.Val22Leu
- 1000Genomes rs1282238542
- gnomAD rs1282238542
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.45
- ESM-1b 1.00
- AlphaMissense 0.49
- MetaLR 0.78
- MetaSVM 0.49
- CADD 23.20
- Population evidence available
- Structural context available