G497S (p.Gly497Ser) variant of SLC26A4 (Pendrin)
G497S (p.Gly497Ser) 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; not provided. 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.
G497S (p.Gly497Ser) variant details
- p.Gly497Ser
- rs111033308
- ClinGen CA261413
- cosmic curated COSV10872
- ClinVar RCV000005085
- Pathogenic
- Rare genetic deafness; Deafness; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Rare genetic deafness; Deafness; not provided)
- EBI: Pathogenic (in DFNB4)
- UniProt: Pathogenic (in DFNB4)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Heterogeneity in the processing defect of SLC26A4 mutants. (PMID 18310264)
- Cited in: A mutation in PDS causes non-syndromic recessive deafness. (PMID 9500541)