G12C (p.Gly12Cys) variant of GJB2 (Gap junction beta-2 protein)
G12C (p.Gly12Cys) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- rs104894408
- ClinGen CA172224
- ClinVar RCV000037839
- ClinVar RCV000080371
- Likely pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.84
- AlphaMissense 0.86
- MetaLR 0.96
- MetaSVM 1.10
- CADD 25.30
- PolyPhen-2 0.98
- ClinVar: Likely pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic (in KIDAD)
- UniProt: Pathogenic (in KIDAD)
- Most common in the 1KG:MXL population (allele frequency 0.016)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)