W12R (p.Trp12Arg) variant of ASXL3 (Q9C0F0)
W12R (p.Trp12Arg) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
W12R (p.Trp12Arg) variant details
- p.Trp12Arg
- gnomAD 18-33578665-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.11
- MetaSVM -0.97
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available