Y530S (p.Tyr530Ser) variant of SLC26A4 (Pendrin)
Y530S (p.Tyr530Ser) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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.
Y530S (p.Tyr530Ser) variant details
- p.Tyr530Ser
- rs747636919
- ClinGen CA4432878
- ClinVar RCV000673239
- ClinVar RCV003472153
- Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 27.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 4; P)
- EBI: Pathogenic (in PDS and DFNB4)
- UniProt: Pathogenic (in PDS and DFNB4)
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available
- Cited in: SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence… (PMID 15689455)
- Cited in: Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct… (PMID 19204907)