Y27H (p.Tyr27His) variant of SLC26A4 (Pendrin)
Y27H (p.Tyr27His) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y27H (p.Tyr27His) variant details
- p.Tyr27His
- rs2129308726
- ClinGen CA368844981
- ClinVar RCV001823277
- Ensembl rs2129308726
- Pathogenic
- Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.41
- MetaLR 0.87
- MetaSVM 0.88
- CADD 31.00
- ClinVar: Pathogenic (Autosomal recessive nonsyndromic hearing loss 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)