L80L (p.Leu80Leu) variant of GJA1 (Gap junction alpha-1 protein)
L80L (p.Leu80Leu) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L80L (p.Leu80Leu) variant details
- p.Leu80Leu
- gnomAD 6-121447085-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.445
- CADD 10.50
- Population evidence available
- Structural context available
- Literature evidence available