S17I (p.Ser17Ile) variant of SLC26A4 (Pendrin)
S17I (p.Ser17Ile) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S17I (p.Ser17Ile) variant details
- p.Ser17Ile
- gnomAD rs1381542421
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.12
- ESM-1b 0.33
- AlphaMissense 0.12
- MetaLR 0.51
- MetaSVM -0.35
- CADD 16.20
- Population evidence available
- Structural context available