Q33E (p.Gln33Glu) variant of DYRK1A (Q13627)
Q33E (p.Gln33Glu) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Q33E (p.Gln33Glu) variant details
- p.Gln33Glu
- gnomAD 21-37472770-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- MetaLR 0.15
- MetaSVM -0.98
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available