S532R (p.Ser532Arg) variant of SLC26A4 (Pendrin)
S532R (p.Ser532Arg) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S532R (p.Ser532Arg) variant details
- p.Ser532Arg
- rs2129317533
- ClinGen CA368841657
- ClinVar RCV002051734
- ClinVar RCV002538664
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.67
- ESM-1b 0.97
- AlphaMissense 0.70
- CADD 22.80
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrom)
- 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)