R32P (p.Arg32Pro) variant of GJB2 (Gap junction beta-2 protein)
R32P (p.Arg32Pro) 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 not provided; not specified. The record also includes variant effect predictions and structural context.
R32P (p.Arg32Pro) variant details
- p.Arg32Pro
- ExAC rs111033190
- TOPMed rs111033190
- gnomAD rs111033190
- Conflicting interpretations
- not provided; not specified
- Missense
- MetaLR 0.99
- MetaSVM 0.96
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Pathogenic (in dbSNP:rs111033190)
- UniProt: Pathogenic (in dbSNP:rs111033190)
- Structural context available