P27T (p.Pro27Thr) variant of ASXL3 (Q9C0F0)
P27T (p.Pro27Thr) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P27T (p.Pro27Thr) variant details
- p.Pro27Thr
- gnomAD 18-33607618-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.09
- MetaSVM -0.93
- CADD 22.70
- Population evidence available
- Structural context available
- Literature evidence available