D60Y (p.Asp60Tyr) variant of DYRK1A (Q13627)
D60Y (p.Asp60Tyr) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
D60Y (p.Asp60Tyr) variant details
- p.Asp60Tyr
- gnomAD 21-37472851-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- MetaLR 0.28
- MetaSVM -0.64
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available