S133T (p.Ser133Thr) variant of SLC26A4 (Pendrin)
S133T (p.Ser133Thr) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S133T (p.Ser133Thr) variant details
- p.Ser133Thr
- rs121908365
- ClinGen CA253311
- ClinVar RCV000005105
- ClinVar RCV001004622
- Pathogenic/Likely pathogenic
- not provided; Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.46
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pendred syndrome; Autosomal recessive nonsyndromic)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. (PMID 11919333)
- Cited in: Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. (PMID 12788906)