K103E (p.Lys103Glu) variant of GJB1 (Gap junction beta-1 protein)
K103E (p.Lys103Glu) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Charcot-Marie-Tooth Neuropathy X. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
K103E (p.Lys103Glu) variant details
- p.Lys103Glu
- rs1131691322
- ClinGen CA413501861
- ClinVar RCV000492924
- ClinVar RCV000704995
- Likely pathogenic
- not provided; Charcot-Marie-Tooth Neuropathy X
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.78
- CADD 23.50
- PolyPhen-2 0.16
- SIFT 0.05
- ClinVar: Likely pathogenic (not provided; Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Connexin32 and X-linked Charcot-Marie-Tooth disease. (PMID 9361298)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)