W3S (p.Trp3Ser) variant of GJB2 (Gap junction beta-2 protein)
W3S (p.Trp3Ser) 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 provided. The record also includes structural context.
W3S (p.Trp3Ser) variant details
- p.Trp3Ser
- rs2500253823
- ClinGen CA387462281
- ClinVar RCV003321350
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available