Q52E (p.Gln52Glu) variant of DYRK1A (Q13627)
Q52E (p.Gln52Glu) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Q52E (p.Gln52Glu) variant details
- p.Gln52Glu
- rs1555977083
- ClinGen CA409942615
- ClinVar RCV001355234
- ClinVar RCV001871927
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- MetaLR 0.12
- MetaSVM -1.04
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.33
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)