G12V (p.Gly12Val) variant of GJB6 (Gap junction beta-6 protein)
G12V (p.Gly12Val) in GJB6 (Gap junction beta-6 protein) is a missense change. The record also includes variant effect predictions.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- cosmic curated COSV53833
- ExAC rs779708708
- TOPMed rs779708708
- gnomAD rs779708708
- Missense
- MetaLR 0.98
- MetaSVM 1.08
- SIFT 0.00