V239D (p.Val239Asp) variant of SLC26A4 (Pendrin)
V239D (p.Val239Asp) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rare genetic deafness; Deafness; Sensorineural hearing loss disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
V239D (p.Val239Asp) variant details
- p.Val239Asp
- rs111033256
- ClinGen CA261438
- ClinVar RCV000036506
- ClinVar RCV000169244
- Pathogenic
- Rare genetic deafness; Deafness; Sensorineural hearing loss disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 27.00
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Pathogenic (Rare genetic deafness; Deafness; Sensorineural hearing loss diso)
- EBI: Pathogenic (in PDS and DFNB4)
- UniProt: Pathogenic (in PDS and DFNB4)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology… (PMID 12676893)
- Cited in: Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of… (PMID 12974744)