C173R (p.Cys173Arg) variant of GJB1 (Gap junction beta-1 protein)
C173R (p.Cys173Arg) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
C173R (p.Cys173Arg) variant details
- p.Cys173Arg
- rs1602349527
- ClinGen CA413502920
- ClinVar RCV000789278
- Ensembl rs1602349527
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.97
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. (PMID 9888385)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)