D50N (p.Asp50Asn) variant of GJB2 (Gap junction beta-2 protein)
D50N (p.Asp50Asn) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ichthyosis and erythrokeratoderma; Autosomal dominant keratitis-ichthyosis-heari. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
D50N (p.Asp50Asn) variant details
- p.Asp50Asn
- rs28931594
- ClinGen CA127027
- ClinVar RCV000018546
- ClinVar RCV000018547
- Pathogenic
- Ichthyosis and erythrokeratoderma; Autosomal dominant keratitis-ichthyosis-heari
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- AlphaMissense 0.62
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (Ichthyosis and erythrokeratoderma; Autosomal dominant keratitis-)
- EBI: Pathogenic (in KIDAD and HID syndrome)
- UniProt: Pathogenic (in KIDAD and HID syndrome)
- Structural context available
- Cited in: Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. (PMID 11912510)
- Cited in: HID and KID syndromes are associated with the same connexin 26 mutation. (PMID 12072059)