D87Y (p.Asp87Tyr) variant of SLC26A4 (Pendrin)
D87Y (p.Asp87Tyr) 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; Pendred syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
D87Y (p.Asp87Tyr) variant details
- p.Asp87Tyr
- rs1554352718
- ClinGen CA368845588
- ClinVar RCV000668101
- ClinVar RCV002532067
- Pathogenic/Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- CADD 31.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)