S133P (p.Ser133Pro) variant of SLC26A4 (Pendrin)
S133P (p.Ser133Pro) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pendred syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
S133P (p.Ser133Pro) variant details
- p.Ser133Pro
- rs121908365
- ClinGen CA368847248
- ClinVar RCV002010951
- ClinVar RCV003323972
- Pathogenic/Likely pathogenic
- Pendred syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Pendred syndrome; not provided)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available