D42D (p.Asp42Asp) variant of DYRK1A (Q13627)
D42D (p.Asp42Asp) in DYRK1A (Q13627) 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.
D42D (p.Asp42Asp) variant details
- p.Asp42Asp
- rs1424978793
- gnomAD 21-37472799-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 11.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available