R43R (p.Arg43Arg) variant of DYRK1A (Q13627)
R43R (p.Arg43Arg) in DYRK1A (Q13627) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R43R (p.Arg43Arg) variant details
- p.Arg43Arg
- rs1429965771
- gnomAD 21-37472802-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 13.50
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available