Y78H (p.Tyr78His) variant of SLC26A4 (Pendrin)
Y78H (p.Tyr78His) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Y78H (p.Tyr78His) variant details
- p.Tyr78His
- rs760794201
- ClinGen CA4432403
- ClinVar RCV001810541
- ExAC rs760794201
- Conflicting interpretations
- Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.09
- CADD 28.70
- ClinVar: Conflicting classifications of pathogenicity (Pendred syndrome)
- EBI: Variant of uncertain significance (in PDS)
- UniProt: Uncertain significance (in PDS)
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)