Y556C (p.Tyr556Cys) variant of SLC26A4 (Pendrin)
Y556C (p.Tyr556Cys) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4; not provided; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
Y556C (p.Tyr556Cys) variant details
- p.Tyr556Cys
- rs763006761
- ClinGen CA4432905
- ClinVar RCV000515668
- ClinVar RCV000670962
- Pathogenic/Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4; not provided; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.41
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4; not provided; P)
- EBI: Pathogenic (in PDS and DFNB4)
- UniProt: Pathogenic (in PDS and DFNB4)
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux… (PMID 11932316)
- Cited in: Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the… (PMID 14679580)