R183H (p.Arg183His) variant of GJB1 (Gap junction beta-1 protein)
R183H (p.Arg183His) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Too. 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.
R183H (p.Arg183His) variant details
- p.Arg183His
- rs1555937233
- ClinGen CA413503111
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10066
- Pathogenic
- Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X; Charcot-Marie-Too
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.96
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Pathogenic (Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Neuropathy X; C)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth… (PMID 10737979)
- Cited in: Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ… (PMID 12477701)