L18L (p.Leu18Leu) variant of ASXL3 (Q9C0F0)
L18L (p.Leu18Leu) in ASXL3 (Q9C0F0) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs1428970437
- gnomAD 18-33578683-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 18.80
- Population evidence available
- Structural context available
- Literature evidence available