G46V (p.Gly46Val) variant of GJA1 (Gap junction alpha-1 protein)
G46V (p.Gly46Val) in GJA1 (Gap junction alpha-1 protein) is a missense change. The record also includes variant effect predictions and structural context.
G46V (p.Gly46Val) variant details
- p.Gly46Val
- ExAC rs780272382
- TOPMed rs780272382
- gnomAD rs780272382
- Missense
- MetaLR 0.98
- MetaSVM 1.07
- SIFT 0.00
- Structural context available