C60Y (p.Cys60Tyr) variant of GJB1 (Gap junction beta-1 protein)
C60Y (p.Cys60Tyr) 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 Charcot-Marie-Tooth Neuropathy X; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
C60Y (p.Cys60Tyr) variant details
- p.Cys60Tyr
- rs1555937082
- ClinGen CA413501299
- ClinVar RCV000654836
- ClinVar RCV000789055
- Likely pathogenic
- Charcot-Marie-Tooth Neuropathy X; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.95
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth Neuropathy X; not provided)
- EBI: Likely pathogenic (in CMTX1)
- UniProt: Likely pathogenic (in CMTX1)
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes. (PMID 20301548)