A30A (p.Ala30Ala) variant of ASXL3 (Q9C0F0)
A30A (p.Ala30Ala) in ASXL3 (Q9C0F0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A30A (p.Ala30Ala) variant details
- p.Ala30Ala
- gnomAD 18-33607629-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 11.30
- Population evidence available
- Structural context available
- Literature evidence available