D724G (p.Asp724Gly) variant of SLC26A4 (Pendrin)
D724G (p.Asp724Gly) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of SLC26A4-related disorder; Rare genetic deafness; Autosomal recessive nonsyndromi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D724G (p.Asp724Gly) variant details
- p.Asp724Gly
- rs757820624
- ClinGen CA4433064
- ClinVar RCV000218320
- ClinVar RCV000824772
- Pathogenic/Likely pathogenic
- SLC26A4-related disorder; Rare genetic deafness; Autosomal recessive nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.86
- MetaSVM 0.92
- CADD 27.70
- ClinVar: Pathogenic/Likely pathogenic (SLC26A4-related disorder; Rare genetic deafness; Autosomal reces)
- EBI: Pathogenic (in PDS)
- UniProt: Pathogenic (in PDS)
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)