H2L (p.His2Leu) variant of DYRK1A (Q13627)
H2L (p.His2Leu) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
H2L (p.His2Leu) variant details
- p.His2Leu
- ExAC rs747540667
- gnomAD rs747540667
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- MetaLR 0.19
- MetaSVM -0.72
- CADD 27.80
- PolyPhen-2 0.77
- SIFT 0.56
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available