C53R (p.Cys53Arg) variant of GJB2 (Gap junction beta-2 protein)
C53R (p.Cys53Arg) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C53R (p.Cys53Arg) variant details
- p.Cys53Arg
- rs1555341986
- ClinGen CA387461766
- ClinVar RCV000667670
- ClinVar RCV005418285
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.97
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)