R164Q (p.Arg164Gln) variant of GJB1 (Gap junction beta-1 protein)
R164Q (p.Arg164Gln) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R164Q (p.Arg164Gln) variant details
- p.Arg164Gln
- rs1241595912
- ClinGen CA413502758
- 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 0.786
- REVEL 0.85
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.01
- 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 REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients… (PMID 10220155)
- Cited in: Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth… (PMID 10737979)