N54K (p.Asn54Lys) variant of GJB2 (Gap junction beta-2 protein)
N54K (p.Asn54Lys) 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 Knuckle pads, deafness AND leukonychia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
N54K (p.Asn54Lys) variant details
- p.Asn54Lys
- rs104894412
- ClinGen CA127032
- ClinVar RCV000018558
- UniProt VAR 032750
- Pathogenic
- Knuckle pads, deafness AND leukonychia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.967
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Knuckle pads, deafness AND leukonychia syndrome)
- EBI: Pathogenic (in BAPS)
- UniProt: Pathogenic (in BAPS)
- Structural context available
- Cited in: Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in… (PMID 15482471)
- Cited in: G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. (PMID 15952212)