D9G (p.Asp9Gly) variant of ASXL3 (Q9C0F0)
D9G (p.Asp9Gly) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
D9G (p.Asp9Gly) variant details
- p.Asp9Gly
- gnomAD 18-33578657-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.87
- MetaLR 0.01
- MetaSVM -0.97
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 4.1e-06)
- Structural context available
- Literature evidence available