G209E (p.Gly209Glu) variant of SLC26A4 (Pendrin)
G209E (p.Gly209Glu) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G209E (p.Gly209Glu) variant details
- p.Gly209Glu
- rs111033303
- ClinGen CA368831124
- ClinVar RCV003555356
- ClinVar RCV004796824
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 4; P)
- EBI: Pathogenic (in DFNB4 and PDS)
- UniProt: Pathogenic (in DFNB4 and PDS)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)