D573Y (p.Asp573Tyr) variant of SLC26A4 (Pendrin)
D573Y (p.Asp573Tyr) 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; Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
D573Y (p.Asp573Tyr) variant details
- p.Asp573Tyr
- rs2535336810
- ClinGen CA368842835
- ClinVar RCV003472917
- ClinVar RCV004801354
- Likely pathogenic
- Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.55
- CADD 29.00
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Likely pathogenic (Pendred syndrome; Autosomal recessive nonsyndromic hearing loss)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)