W3C (p.Trp3Cys) variant of GJB2 (Gap junction beta-2 protein)
W3C (p.Trp3Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
W3C (p.Trp3Cys) variant details
- p.Trp3Cys
- rs111033401
- ClinGen CA387462278
- ClinVar RCV001280637
- ClinVar RCV001664795
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available