R184P (p.Arg184Pro) variant of GJB2 (Gap junction beta-2 protein)
R184P (p.Arg184Pro) 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; GJB2-related disorder; Knuckle pads, deafness AND leukony. 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.
R184P (p.Arg184Pro) variant details
- p.Arg184Pro
- rs80338950
- ClinGen CA341438
- ClinVar RCV000018531
- ClinVar RCV000211781
- Pathogenic
- Rare genetic deafness; GJB2-related disorder; Knuckle pads, deafness AND leukony
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.98
- AlphaMissense 0.77
- MetaLR 0.97
- MetaSVM 1.08
- CADD 29.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Rare genetic deafness; GJB2-related disorder; Knuckle pads, deaf)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available
- Cited in: Maternal origin of a de novo mutation of the connexin 26 gene resulting in recessive nonsyndromic deafness. (PMID 14735592)
- Cited in: GJB2 mutations: passage through Iran. (PMID 15666300)