I62L (p.Ile62Leu) variant of DYRK1A (Q13627)
I62L (p.Ile62Leu) 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.
I62L (p.Ile62Leu) variant details
- p.Ile62Leu
- gnomAD 21-37472857-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- MetaLR 0.10
- MetaSVM -1.02
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.86
- Population evidence available
- Structural context available
- Literature evidence available