L90L (p.Leu90Leu) variant of GJA1 (Gap junction alpha-1 protein)
L90L (p.Leu90Leu) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L90L (p.Leu90Leu) variant details
- p.Leu90Leu
- rs886061009
- gnomAD 6-121447117-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 7.46
- Population evidence available
- Structural context available
- Literature evidence available