R33L (p.Arg33Leu) variant of GJA5 (Gap junction alpha-5 protein)
R33L (p.Arg33Leu) in GJA5 (Gap junction alpha-5 protein) is a missense change. The record also includes variant effect predictions and structural context.
R33L (p.Arg33Leu) variant details
- p.Arg33Leu
- TOPMed rs1311922669
- gnomAD rs1311922669
- Missense
- MetaLR 0.99
- MetaSVM 0.95
- SIFT 0.00
- Structural context available