R75Q (p.Arg75Gln) variant of GJB2 (Gap junction beta-2 protein)
R75Q (p.Arg75Gln) 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 Rare genetic deafness; Nonsyndromic genetic hearing loss; Hereditary palmoplanta. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R75Q (p.Arg75Gln) variant details
- p.Arg75Gln
- rs28931593
- ClinGen CA127030
- ClinVar RCV000018554
- ClinVar RCV000018555
- Pathogenic
- Rare genetic deafness; Nonsyndromic genetic hearing loss; Hereditary palmoplanta
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 1.00
- CADD 29.60
- SIFT 0.00
- ClinVar: Pathogenic (Rare genetic deafness; Nonsyndromic genetic hearing loss; Heredi)
- EBI: Pathogenic (in PPKDFN)
- UniProt: Pathogenic (in PPKDFN)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a… (PMID 12372058)
- Cited in: Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic… (PMID 15996214)