L18P (p.Leu18Pro) variant of ASXL3 (Q9C0F0)
L18P (p.Leu18Pro) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- gnomAD 18-33578684-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.03
- MetaSVM -1.07
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available