G12R (p.Gly12Arg) variant of GJB2 (Gap junction beta-2 protein)
G12R (p.Gly12Arg) 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 Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G12R (p.Gly12Arg) variant details
- p.Gly12Arg
- rs104894408
- ClinGen CA127028
- ClinVar RCV000018548
- UniProt VAR 015453
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- AlphaMissense 0.86
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.98
- SIFT 0.02
- EVE 0.55
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic (in KIDAD)
- UniProt: Pathogenic (in KIDAD)
- Population evidence available
- Structural context available
- Cited in: Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. (PMID 11912510)
- Cited in: De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID)… (PMID 12548749)