C282Y (p.Cys282Tyr) variant of SLC26A4 (Pendrin)
C282Y (p.Cys282Tyr) 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 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
C282Y (p.Cys282Tyr) variant details
- p.Cys282Tyr
- rs111033454
- ClinGen CA261440
- cosmic curated COSV55920
- ClinVar RCV000036508
- Likely pathogenic
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.79
- MetaSVM 0.71
- CADD 24.50
- ClinVar: Likely pathogenic (Pendred syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)