L93L (p.Leu93Leu) variant of GJA1 (Gap junction alpha-1 protein)
L93L (p.Leu93Leu) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L93L (p.Leu93Leu) variant details
- p.Leu93Leu
- rs752276109
- gnomAD 6-121447126-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 9.94
- Population evidence available
- Structural context available
- Literature evidence available