R24W (p.Arg24Trp) variant of SLC26A4 (Pendrin)
R24W (p.Arg24Trp) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R24W (p.Arg24Trp) variant details
- p.Arg24Trp
- gnomAD 7-107661711-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.90
- MetaSVM 0.98
- CADD 28.70
- Population evidence available
- Structural context available
- Literature evidence available