R142W (p.Arg142Trp) variant of GJB1 (Gap junction beta-1 protein)
R142W (p.Arg142Trp) 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 Neuropathy X; not provided; Charcot-Marie-Tooth disease X-li. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R142W (p.Arg142Trp) variant details
- p.Arg142Trp
- rs104894810
- ClinGen CA255229
- ClinVar RCV000011176
- ClinVar RCV000236641
- Pathogenic
- Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-Tooth disease X-li
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.92
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-To)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: HMSN and HNPP. Laboratory service provision in the south west of England--two years' experience. (PMID 10586284)
- Cited in: Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population. (PMID 10732813)