Q45L (p.Gln45Leu) variant of DYRK1A (Q13627)
Q45L (p.Gln45Leu) in DYRK1A (Q13627) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
Q45L (p.Gln45Leu) variant details
- p.Gln45Leu
- rs2052271309
- ClinGen CA409942567
- ClinVar RCV003529373
- TOPMed rs2052271309
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- AlphaMissense 0.10
- MetaLR 0.26
- MetaSVM -0.63
- PolyPhen-2 0.91
- SIFT 0.01
- MutPred 0.14
- EBI: Benign
- UniProt: Benign
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)