I33L (p.Ile33Leu) variant of ASXL3 (Q9C0F0)
I33L (p.Ile33Leu) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I33L (p.Ile33Leu) variant details
- p.Ile33Leu
- gnomAD 18-33607636-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.21
- MetaSVM -0.61
- CADD 25.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available