Y78C (p.Tyr78Cys) variant of SLC26A4 (Pendrin)
Y78C (p.Tyr78Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
Y78C (p.Tyr78Cys) variant details
- p.Tyr78Cys
- rs2129309178
- ClinGen CA368845454
- ClinVar RCV003555355
- ClinVar RCV005931447
- Pathogenic/Likely pathogenic
- not provided; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.93
- MetaSVM 1.09
- CADD 29.50
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pendred syndrome)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- 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: Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic… (PMID 15355436)