W12L (p.Trp12Leu) variant of ASXL3 (Q9C0F0)
W12L (p.Trp12Leu) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
W12L (p.Trp12Leu) variant details
- p.Trp12Leu
- gnomAD 18-33578666-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.11
- MetaSVM -0.87
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available