R164W (p.Arg164Trp) variant of GJB1 (Gap junction beta-1 protein)
R164W (p.Arg164Trp) 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 Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R164W (p.Arg164Trp) variant details
- p.Arg164Trp
- rs139643362
- ClinGen CA277620
- NCI-TCGA Cosmic COSV6213
- cosmic curated COSV62139
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- REVEL 0.81
- CADD 24.20
- PolyPhen-2 0.52
- SIFT 0.06
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not p)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: X-linked Charcot-Marie-Tooth disease and connexin32. (PMID 10873293)
- Cited in: Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause… (PMID 11437164)