S19G (p.Ser19Gly) variant of SLC26A4 (Pendrin)
S19G (p.Ser19Gly) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S19G (p.Ser19Gly) variant details
- p.Ser19Gly
- gnomAD 7-107661696-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.59
- MetaSVM -0.10
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available