G45E (p.Gly45Glu) variant of GJB2 (Gap junction beta-2 protein)
G45E (p.Gly45Glu) 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 Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal d. 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.
G45E (p.Gly45Glu) variant details
- p.Gly45Glu
- rs72561723
- ClinGen CA127033
- cosmic curated COSV10749
- ClinVar RCV000018561
- Pathogenic
- Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Autosomal d
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.96
- MetaLR 0.97
- MetaSVM 1.10
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the HGDP:JAPANESE population (allele frequency 0.019)
- Structural context available
- Cited in: GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. (PMID 12560944)
- Cited in: GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. (PMID 15633193)