L18M (p.Leu18Met) variant of ASXL3 (Q9C0F0)
L18M (p.Leu18Met) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L18M (p.Leu18Met) variant details
- p.Leu18Met
- gnomAD 18-33578683-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.02
- MetaSVM -0.99
- CADD 20.20
- Population evidence available
- Structural context available
- Literature evidence available