Y530H (p.Tyr530His) variant of SLC26A4 (Pendrin)
Y530H (p.Tyr530His) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome. 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.
Y530H (p.Tyr530His) variant details
- p.Tyr530His
- rs111033254
- ClinGen CA253313
- ClinVar RCV000005107
- ClinVar RCV000036449
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.94
- MetaSVM 1.09
- CADD 28.30
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 4; P)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype… (PMID 11317356)
- Cited in: Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. (PMID 12788906)