I62T (p.Ile62Thr) variant of DYRK1A (Q13627)
I62T (p.Ile62Thr) 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, published literature, and structural context.
I62T (p.Ile62Thr) variant details
- p.Ile62Thr
- gnomAD 21-37472858-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- MetaLR 0.08
- MetaSVM -1.03
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.85
- Population evidence available
- Structural context available
- Literature evidence available