R5R (p.Arg5Arg) variant of ASXL3 (Q9C0F0)
R5R (p.Arg5Arg) in ASXL3 (Q9C0F0) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R5R (p.Arg5Arg) variant details
- p.Arg5Arg
- rs748441065
- gnomAD 18-33578646-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 15.30
- Most common in the African/African-American population (allele frequency 4e-05)
- Structural context available
- Literature evidence available