V22E (p.Val22Glu) variant of SLC26A4 (Pendrin)
V22E (p.Val22Glu) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V22E (p.Val22Glu) variant details
- p.Val22Glu
- gnomAD 7-107661706-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.77
- MetaSVM 0.49
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available