S93R (p.Ser93Arg) variant of SLC26A4 (Pendrin)
S93R (p.Ser93Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S93R (p.Ser93Arg) variant details
- p.Ser93Arg
- rs2129309202
- ClinGen CA368845701
- ClinVar RCV002032668
- ClinVar RCV002051735
- Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.76
- MetaSVM 0.66
- CADD 27.40
- ClinVar: Likely pathogenic (Pendred syndrome)
- 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)