I48T (p.Ile48Thr) variant of DYRK1A (Q13627)
I48T (p.Ile48Thr) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
I48T (p.Ile48Thr) variant details
- p.Ile48Thr
- TOPMed rs1303278052
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- MetaLR 0.10
- MetaSVM -1.02
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available