Q29H (p.Gln29His) variant of DYRK1A (Q13627)
Q29H (p.Gln29His) 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 0.40 / 1. The record also includes published literature and structural context.
Q29H (p.Gln29His) variant details
- p.Gln29His
- rs1010198969
- ClinGen CA409942390
- ClinVar RCV001986591
- TOPMed rs1010198969
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.18
- MetaLR 0.24
- MetaSVM -0.67
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)