S28G (p.Ser28Gly) variant of SLC26A4 (Pendrin)
S28G (p.Ser28Gly) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- rs1554352234
- ClinGen CA368844992
- ClinVar RCV000515700
- Ensembl rs1554352234
- Pathogenic
- Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.40
- ESM-1b 0.89
- AlphaMissense 0.14
- MetaLR 0.71
- MetaSVM 0.35
- CADD 24.30
- ClinVar: Pathogenic (Autosomal recessive nonsyndromic hearing loss 4)
- EBI: Pathogenic (in PDS and DFNB4)
- UniProt: Pathogenic (in PDS and DFNB4)
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)