A16A (p.Ala16Ala) variant of ASXL3 (Q9C0F0)
A16A (p.Ala16Ala) in ASXL3 (Q9C0F0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A16A (p.Ala16Ala) variant details
- p.Ala16Ala
- gnomAD 18-33578679-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.414
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available