C18F (p.Cys18Phe) variant of SLC26A4 (Pendrin)
C18F (p.Cys18Phe) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
C18F (p.Cys18Phe) variant details
- p.Cys18Phe
- TOPMed rs1790557445
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.44
- MetaSVM -0.60
- CADD 19.20
- Population evidence available
- Structural context available