S19C (p.Ser19Cys) variant of SLC26A4 (Pendrin)
S19C (p.Ser19Cys) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S19C (p.Ser19Cys) variant details
- p.Ser19Cys
- gnomAD 7-107661696-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.40
- ESM-1b 0.31
- AlphaMissense 0.08
- MetaLR 0.61
- MetaSVM 0.25
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available