C565Y (p.Cys565Tyr) variant of SLC26A4 (Pendrin)
C565Y (p.Cys565Tyr) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
C565Y (p.Cys565Tyr) variant details
- p.Cys565Tyr
- rs111033257
- ClinGen CA261418
- ClinVar RCV000036454
- ClinVar RCV000666339
- Likely pathogenic
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 22.90
- PolyPhen-2 0.32
- SIFT 0.00
- ClinVar: Likely pathogenic (Pendred syndrome)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the… (PMID 14679580)
- Cited in: Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct… (PMID 19204907)