L126L (p.Leu126Leu) variant of CASK (O14936)
L126L (p.Leu126Leu) in CASK (O14936) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L126L (p.Leu126Leu) variant details
- p.Leu126Leu
- gnomAD X-41523023-C-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 21.20
- Population evidence available
- Structural context available
- Literature evidence available