E21G (p.Glu21Gly) variant of ASXL3 (Q9C0F0)
E21G (p.Glu21Gly) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E21G (p.Glu21Gly) variant details
- p.Glu21Gly
- ExAC rs202002253
- TOPMed rs202002253
- gnomAD rs202002253
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.08
- MetaSVM -0.95
- CADD 26.30
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available