S19R (p.Ser19Arg) variant of SLC26A4 (Pendrin)
S19R (p.Ser19Arg) in SLC26A4 (Pendrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S19R (p.Ser19Arg) variant details
- p.Ser19Arg
- gnomAD 7-107661698-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.51
- MetaSVM -0.48
- CADD 15.90
- Population evidence available
- Structural context available
- Literature evidence available