R183S (p.Arg183Ser) variant of GJB1 (Gap junction beta-1 protein)
R183S (p.Arg183Ser) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R183S (p.Arg183Ser) variant details
- p.Arg183Ser
- rs863224471
- ClinGen CA413503107
- ClinVar RCV000789838
- Ensembl rs863224471
- Uncertain significance
- Charcot-Marie-Tooth Neuropathy X; not provided; Charcot-Marie-Tooth disease X-li
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.96
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Population evidence available
- Structural context available
- Cited in: Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease… (PMID 9187667)
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)