T7N (p.Thr7Asn) variant of DYRK1A (Q13627)
T7N (p.Thr7Asn) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T7N (p.Thr7Asn) variant details
- p.Thr7Asn
- gnomAD 21-37472693-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- MetaLR 0.34
- MetaSVM -0.46
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available