R184Q (p.Arg184Gln) variant of GJB2 (Gap junction beta-2 protein)
R184Q (p.Arg184Gln) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rare genetic deafness; not specified; Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
R184Q (p.Arg184Gln) variant details
- p.Arg184Gln
- rs80338950
- ClinGen CA172235
- cosmic curated COSV67010
- ClinVar RCV000022511
- Pathogenic/Likely pathogenic
- Rare genetic deafness; not specified; Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- AlphaMissense 0.77
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.52
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; not specified; Nonsyndromic genetic heari)
- EBI: Pathogenic (in DFNA3A)
- UniProt: Pathogenic (in DFNA3A)
- Structural context available
- Cited in: Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana. (PMID 11439000)
- Cited in: Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30. (PMID 20442751)