N54S (p.Asn54Ser) variant of GJB2 (Gap junction beta-2 protein)
N54S (p.Asn54Ser) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant nonsyndromic hea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
N54S (p.Asn54Ser) variant details
- p.Asn54Ser
- rs2137308512
- ClinGen CA387461749
- ClinVar RCV001824481
- ClinVar RCV005006082
- Conflicting interpretations
- Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant nonsyndromic hea
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 0.64
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Conflicting classifications of pathogenicity (Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant)
- EBI: Likely pathogenic (in BAPS)
- UniProt: Likely pathogenic (in BAPS)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)