S19I (p.Ser19Ile) variant of SLC26A4 (Pendrin)
S19I (p.Ser19Ile) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S19I (p.Ser19Ile) variant details
- p.Ser19Ile
- gnomAD 7-107661697-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.37
- ESM-1b 0.54
- AlphaMissense 0.13
- MetaLR 0.59
- MetaSVM 0.03
- CADD 20.40
- Population evidence available
- Structural context available
- Literature evidence available