Q39H (p.Gln39His) variant of DYRK1A (Q13627)
Q39H (p.Gln39His) in DYRK1A (Q13627) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
Q39H (p.Gln39His) variant details
- p.Gln39His
- rs2148556605
- ClinGen CA409942531
- ClinVar RCV001758760
- Ensembl rs2148556605
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- AlphaMissense 0.10
- MetaLR 0.15
- MetaSVM -0.93
- PolyPhen-2 0.94
- SIFT 0.01
- MutPred 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available