A13A (p.Ala13Ala) variant of ASXL3 (Q9C0F0)
A13A (p.Ala13Ala) in ASXL3 (Q9C0F0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- rs917031264
- gnomAD 18-33578670-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.477
- CADD 15.70
- Population evidence available
- Structural context available
- Literature evidence available