R22Q (p.Arg22Gln) variant of GJB1 (Gap junction beta-1 protein)
R22Q (p.Arg22Gln) 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 not provided; Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X. 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.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs1060501002
- ClinGen CA16616533
- ClinVar RCV000475257
- ClinVar RCV000517974
- Pathogenic/Likely pathogenic
- not provided; Inborn genetic diseases; Charcot-Marie-Tooth Neuropathy X
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.87
- CADD 25.90
- PolyPhen-2 0.87
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; Inborn genetic diseases; Charcot-Marie-Tooth Neuro)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: HMSN and HNPP. Laboratory service provision in the south west of England--two years' experience. (PMID 10586284)
- Cited in: X-linked Charcot-Marie-Tooth disease and connexin32. (PMID 10873293)