L20P (p.Leu20Pro) variant of ASXL3 (Q9C0F0)
L20P (p.Leu20Pro) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L20P (p.Leu20Pro) variant details
- p.Leu20Pro
- gnomAD 18-33607598-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.21
- MetaSVM -0.73
- CADD 27.00
- Population evidence available
- Structural context available
- Literature evidence available