R107W (p.Arg107Trp) variant of GJB1 (Gap junction beta-1 protein)
R107W (p.Arg107Trp) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R107W (p.Arg107Trp) variant details
- p.Arg107Trp
- rs863224973
- ClinGen CA279061
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10066
- Conflicting interpretations
- Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-Tooth disease X-li
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.69
- CADD 23.30
- PolyPhen-2 0.89
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-To)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population. (PMID 10732813)
- Cited in: Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth… (PMID 10737979)