S28R (p.Ser28Arg) variant of SLC26A4 (Pendrin)
S28R (p.Ser28Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- rs539699299
- ClinGen CA274233
- ClinVar RCV000169378
- ClinVar RCV000505875
- Likely pathogenic
- Pendred syndrome; Autosomal recessive nonsyndromic hearing loss 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.77
- MetaSVM 0.64
- CADD 28.40
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in PDS and DFNB4)
- UniProt: Pathogenic (in PDS and DFNB4)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies. (PMID 11919333)
- Cited in: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology… (PMID 12676893)