E29G (p.Glu29Gly) variant of SLC26A4 (Pendrin)
E29G (p.Glu29Gly) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
E29G (p.Glu29Gly) variant details
- p.Glu29Gly
- rs1446406563
- ClinGen CA368845005
- ClinVar RCV000667499
- ClinVar RCV002477489
- Conflicting interpretations
- not provided; Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.36
- MetaLR 0.80
- MetaSVM 0.71
- CADD 32.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive nonsyndromic hearing loss 4; P)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)