A15G (p.Ala15Gly) variant of ASXL3 (Q9C0F0)
A15G (p.Ala15Gly) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A15G (p.Ala15Gly) variant details
- p.Ala15Gly
- gnomAD 18-33578675-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.86
- MetaLR 0.06
- MetaSVM -1.01
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available