Y211H (p.Tyr211His) variant of GJB1 (Gap junction beta-1 protein)
Y211H (p.Tyr211His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
Y211H (p.Tyr211His) variant details
- p.Tyr211His
- rs1602349785
- ClinGen CA413503368
- ClinVar RCV000789814
- ClinVar RCV006464248
- Pathogenic
- Charcot-Marie-Tooth Neuropathy X
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.90
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (Charcot-Marie-Tooth Neuropathy X)
- EBI: Pathogenic (in CMTX1)
- UniProt: Pathogenic (in CMTX1)
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Mutational analysis and genotype/phenotype correlation in Turkish Charcot-Marie-Tooth Type 1 and HNPP patients. (PMID 11140841)
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)