A13G (p.Ala13Gly) variant of ASXL3 (Q9C0F0)
A13G (p.Ala13Gly) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A13G (p.Ala13Gly) variant details
- p.Ala13Gly
- gnomAD 18-33578669-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.07
- MetaSVM -1.02
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available