L18Q (p.Leu18Gln) variant of ASXL3 (Q9C0F0)
L18Q (p.Leu18Gln) 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.
L18Q (p.Leu18Gln) variant details
- p.Leu18Gln
- gnomAD 18-33578684-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.75
- MetaLR 0.03
- MetaSVM -1.02
- CADD 24.10
- Population evidence available
- Structural context available
- Literature evidence available