I529S (p.Ile529Ser) variant of SLC26A4 (Pendrin)
I529S (p.Ile529Ser) 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; 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.
I529S (p.Ile529Ser) variant details
- p.Ile529Ser
- rs786204739
- ClinGen CA274438
- ClinVar RCV000169586
- ClinVar RCV000515656
- Pathogenic/Likely pathogenic
- not provided; Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.93
- MetaSVM 1.06
- CADD 29.40
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pendred syndrome; Autosomal recessive nonsyndromic)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)