S23L (p.Ser23Leu) variant of SLC26A4 (Pendrin)
S23L (p.Ser23Leu) in SLC26A4 (Pendrin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S23L (p.Ser23Leu) variant details
- p.Ser23Leu
- cosmic curated COSV99707
- TOPMed rs397516430
- gnomAD rs397516430
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.11
- MetaLR 0.65
- MetaSVM 0.21
- CADD 23.90
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available