R184W (p.Arg184Trp) variant of GJB2 (Gap junction beta-2 protein)
R184W (p.Arg184Trp) 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 Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Autosomal dominan. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R184W (p.Arg184Trp) variant details
- p.Arg184Trp
- rs998045226
- ClinGen CA246459909
- ClinVar RCV000678887
- ClinVar RCV001078465
- Pathogenic
- Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Autosomal dominan
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.11
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hearing loss, autosomal recessive)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: High frequency hearing loss correlated with mutations in the GJB2 gene. (PMID 10830906)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)