V84M (p.Val84Met) variant of GJB2 (Gap junction beta-2 protein)
V84M (p.Val84Met) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GJB2-related disorder; Monogenic hearing loss; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
V84M (p.Val84Met) variant details
- p.Val84Met
- rs104894409
- ClinGen CA257683
- ClinVar RCV000018564
- ClinVar RCV000211769
- Pathogenic
- GJB2-related disorder; Monogenic hearing loss; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.94
- MetaLR 0.99
- MetaSVM 1.05
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (GJB2-related disorder; Monogenic hearing loss; not provided)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: A novel hearing-loss-related mutation occurring in the GJB2 basal promoter. (PMID 17660464)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)