F180L (p.Phe180Leu) variant of GJB1 (Gap junction beta-1 protein)
F180L (p.Phe180Leu) 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 Charcot-Marie-Tooth disease X-linked dominant 1; Charcot-Marie-Tooth Neuropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
F180L (p.Phe180Leu) variant details
- p.Phe180Leu
- rs1602349603
- ClinGen CA413503052
- ClinVar RCV000790237
- ClinVar RCV000990866
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease X-linked dominant 1; Charcot-Marie-Tooth Neuropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.94
- CADD 20.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease X-linked dominant 1; Charcot-Marie-T)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Population evidence available
- 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)