I82L (p.Ile82Leu) variant of GJA1 (Gap junction alpha-1 protein)
I82L (p.Ile82Leu) in GJA1 (Gap junction alpha-1 protein) is a missense change. The record also includes structural context.
I82L (p.Ile82Leu) variant details
- p.Ile82Leu
- TOPMed rs1466665249
- gnomAD rs1466665249
- Missense
- Structural context available