C53S (p.Cys53Ser) variant of GJB2 (Gap junction beta-2 protein)
C53S (p.Cys53Ser) 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 Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
C53S (p.Cys53Ser) variant details
- p.Cys53Ser
- rs1555341986
- ClinGen CA387461767
- ClinVar RCV002051744
- Ensembl rs1555341986
- Pathogenic
- Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)