R183C (p.Arg183Cys) variant of GJB1 (Gap junction beta-1 protein)
R183C (p.Arg183Cys) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-Tooth disease X-li. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R183C (p.Arg183Cys) variant details
- p.Arg183Cys
- rs863224471
- ClinGen CA336920
- ClinVar RCV000197033
- ClinVar RCV000235360
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-Tooth disease X-li
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.97
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-To)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease… (PMID 9187667)
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)