E384G (p.Glu384Gly) variant of SLC26A4 (Pendrin)
E384G (p.Glu384Gly) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rare genetic deafness; SLC26A4-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
E384G (p.Glu384Gly) variant details
- p.Glu384Gly
- rs111033244
- ClinGen CA261398
- ClinVar RCV000005089
- ClinVar RCV000036425
- Pathogenic/Likely pathogenic
- Rare genetic deafness; SLC26A4-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; SLC26A4-related disorder; not provided)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation. (PMID 12788906)
- Cited in: Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the… (PMID 14679580)