Q52Q (p.Gln52Gln) variant of DYRK1A (Q13627)
Q52Q (p.Gln52Gln) in DYRK1A (Q13627) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q52Q (p.Gln52Gln) variant details
- p.Gln52Gln
- rs1248202604
- gnomAD 21-37472829-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.532
- CADD 9.55
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available