E29Q (p.Glu29Gln) variant of SLC26A4 (Pendrin)
E29Q (p.Glu29Gln) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Monogenic hearing loss; SLC26A4-related disorder; Rare genetic deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
E29Q (p.Glu29Gln) variant details
- p.Glu29Gln
- rs111033205
- ClinGen CA253315
- ClinVar RCV000005111
- ClinVar RCV000036509
- Pathogenic/Likely pathogenic
- Monogenic hearing loss; SLC26A4-related disorder; Rare genetic deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.73
- MetaSVM 0.40
- CADD 22.30
- ClinVar: Pathogenic/Likely pathogenic (Monogenic hearing loss; SLC26A4-related disorder; Rare genetic d)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Cited in: Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype… (PMID 11317356)
- Cited in: Lack of pendrin expression leads to deafness and expansion of the endolymphatic compartment in inner ears of Foxi1 null… (PMID 12642503)