I48L (p.Ile48Leu) variant of DYRK1A (Q13627)
I48L (p.Ile48Leu) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I48L (p.Ile48Leu) variant details
- p.Ile48Leu
- gnomAD rs1284054066
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- MetaLR 0.08
- MetaSVM -1.07
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available