G209V (p.Gly209Val) variant of SLC26A4 (Pendrin)
G209V (p.Gly209Val) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Monogenic hearing loss; SLC26A4-related disorder; Rare genetic deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G209V (p.Gly209Val) variant details
- p.Gly209Val
- rs111033303
- ClinGen CA253304
- ClinVar RCV000005090
- ClinVar RCV000036501
- Pathogenic/Likely pathogenic
- Monogenic hearing loss; SLC26A4-related disorder; Rare genetic deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Monogenic hearing loss; SLC26A4-related disorder; Rare genetic d)
- EBI: Pathogenic (in DFNB4 and PDS)
- UniProt: Pathogenic (in DFNB4 and PDS)
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. (PMID 10190331)
- Cited in: Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene. (PMID 10700480)