R17R (p.Arg17Arg) variant of ASXL3 (Q9C0F0)
R17R (p.Arg17Arg) in ASXL3 (Q9C0F0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R17R (p.Arg17Arg) variant details
- p.Arg17Arg
- gnomAD 18-33578682-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 15.80
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available