I33M (p.Ile33Met) variant of ASXL3 (Q9C0F0)
I33M (p.Ile33Met) in ASXL3 (Q9C0F0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I33M (p.Ile33Met) variant details
- p.Ile33Met
- gnomAD rs1286328186
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.24
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.20
- MetaSVM -0.92
- CADD 23.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available