G672E (p.Gly672Glu) variant of SLC26A4 (Pendrin)
G672E (p.Gly672Glu) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G672E (p.Gly672Glu) variant details
- p.Gly672Glu
- rs111033309
- ClinGen CA261423
- ClinVar RCV000036467
- ClinVar RCV000778812
- Pathogenic/Likely pathogenic
- Rare genetic deafness; SLC26A4-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 26.60
- PolyPhen-2 0.68
- 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 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype… (PMID 11317356)
- Cited in: Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux… (PMID 11932316)