W12C (p.Trp12Cys) variant of ASXL3 (Q9C0F0)
W12C (p.Trp12Cys) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
W12C (p.Trp12Cys) variant details
- p.Trp12Cys
- gnomAD 18-33578667-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.10
- MetaSVM -0.93
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available