G424D (p.Gly424Asp) variant of SLC26A4 (Pendrin)
G424D (p.Gly424Asp) in SLC26A4 (Pendrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Pendred syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G424D (p.Gly424Asp) variant details
- p.Gly424Asp
- rs1791675770
- ClinGen CA368840257
- NCI-TCGA Cosmic COSV9970
- cosmic curated COSV99707
- Pathogenic/Likely pathogenic
- not provided; Pendred syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Pendred syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: SLC26A4-Related Sensorineural Hearing Loss. (PMID 20301640)