E208K (p.Glu208Lys) variant of GJB1 (Gap junction beta-1 protein)
E208K (p.Glu208Lys) 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 Charcot-Marie-Tooth Neuropathy X; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
E208K (p.Glu208Lys) variant details
- p.Glu208Lys
- rs1555937270
- ClinGen CA413503325
- ClinVar RCV000518825
- ClinVar RCV000789848
- Pathogenic
- Charcot-Marie-Tooth Neuropathy X; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.97
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Charcot-Marie-Tooth Neuropathy X; not provided; Inborn genetic d)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations. (PMID 10234007)
- Cited in: Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth… (PMID 10737979)