L8C (p.Leu8Cys) variant of SLC2A10 (O95528)
L8C (p.Leu8Cys) in SLC2A10 (O95528) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L8C (p.Leu8Cys) variant details
- p.Leu8Cys
- rs765380452
- gnomAD 20-46725056-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 14.90
- Population evidence available
- Structural context available
- Literature evidence available