D9E (p.Asp9Glu) variant of ASXL3 (Q9C0F0)
D9E (p.Asp9Glu) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
D9E (p.Asp9Glu) variant details
- p.Asp9Glu
- Ensembl rs2064966367
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.74
- MetaLR 0.01
- MetaSVM -0.95
- CADD 16.10
- Population evidence available
- Structural context available