R15Q (p.Arg15Gln) variant of GJB1 (Gap junction beta-1 protein)
R15Q (p.Arg15Gln) 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 Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R15Q (p.Arg15Gln) variant details
- p.Arg15Gln
- rs863224974
- ClinGen CA279084
- cosmic curated COSV10889
- ClinVar RCV000234336
- Pathogenic
- Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.82
- CADD 26.00
- PolyPhen-2 0.94
- SIFT 0.05
- ClinVar: 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: Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). (PMID 8162049)
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)