S8P (p.Ser8Pro) variant of SLC26A4 (Pendrin)
S8P (p.Ser8Pro) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S8P (p.Ser8Pro) variant details
- p.Ser8Pro
- Ensembl rs2129308693
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.52
- MetaSVM -0.44
- CADD 17.30
- Population evidence available
- Structural context available