A30E (p.Ala30Glu) variant of ASXL3 (Q9C0F0)
A30E (p.Ala30Glu) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A30E (p.Ala30Glu) variant details
- p.Ala30Glu
- Ensembl rs868535897
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.04
- MetaSVM -1.14
- CADD 24.40
- Population evidence available
- Structural context available