G334E (p.Gly334Glu) variant of SLC26A4 (Pendrin)
G334E (p.Gly334Glu) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pendred syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G334E (p.Gly334Glu) variant details
- p.Gly334Glu
- rs146281367
- ClinGen CA164205791
- ClinVar RCV001953602
- ClinVar RCV005406232
- Pathogenic/Likely pathogenic
- Pendred syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.80
- MetaLR 0.92
- MetaSVM 1.04
- CADD 34.00
- ClinVar: Pathogenic/Likely pathogenic (Pendred syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)