R75W (p.Arg75Trp) variant of GJB2 (Gap junction beta-2 protein)
R75W (p.Arg75Trp) 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; Autosomal dominant GJB2-related disorders; Nonsyndromic g. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
R75W (p.Arg75Trp) variant details
- p.Arg75Trp
- rs104894402
- ClinGen CA257676
- ClinVar RCV000018535
- ClinVar RCV000211763
- Pathogenic
- Rare genetic deafness; Autosomal dominant GJB2-related disorders; Nonsyndromic g
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic (Rare genetic deafness; Autosomal dominant GJB2-related disorders)
- EBI: Pathogenic (in PPKDFN and DFNA3A)
- UniProt: Pathogenic (in PPKDFN and DFNA3A)
- Structural context available
- Cited in: De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. (PMID 11354642)
- Cited in: Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. (PMID 12668604)