Q45P (p.Gln45Pro) variant of DYRK1A (Q13627)
Q45P (p.Gln45Pro) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q45P (p.Gln45Pro) variant details
- p.Gln45Pro
- gnomAD 21-37472807-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- MetaLR 0.21
- MetaSVM -0.72
- CADD 22.70
- PolyPhen-2 0.92
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available