D60H (p.Asp60His) variant of DYRK1A (Q13627)
D60H (p.Asp60His) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
D60H (p.Asp60His) variant details
- p.Asp60His
- TOPMed rs2052273693
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- MetaLR 0.27
- MetaSVM -0.68
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available