G11R (p.Gly11Arg) variant of GJB6 (Gap junction beta-6 protein)
G11R (p.Gly11Arg) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GJB6-related disorder; Inborn genetic diseases; Hidrotic ectodermal dysplasia sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and published literature.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- rs104894415
- UniProt VAR 015696
- TOPMed rs104894415
- gnomAD rs104894415
- Pathogenic
- GJB6-related disorder; Inborn genetic diseases; Hidrotic ectodermal dysplasia sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Pathogenic (Autosomal dominant nonsyndromic hearing loss 3B; Autosomal reces)
- EBI: Pathogenic (in ECTD2)
- UniProt: Pathogenic (in ECTD2)
- Population evidence available
- Cited in: Mutations in GJB6 cause hidrotic ectodermal dysplasia. (PMID 11017065)
- Cited in: A novel connexin 30 mutation in Clouston syndrome. (PMID 11874494)