G95E (p.Gly95Glu) variant of SLC26A4 (Pendrin)
G95E (p.Gly95Glu) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 4. 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.
G95E (p.Gly95Glu) variant details
- p.Gly95Glu
- rs2129309208
- ClinGen CA368845736
- ClinVar RCV001809339
- Ensembl rs2129309208
- Pathogenic/Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.74
- MetaSVM 0.78
- CADD 26.80
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 4)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)