Q63E (p.Gln63Glu) variant of DYRK1A (Q13627)
Q63E (p.Gln63Glu) in DYRK1A (Q13627) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
Q63E (p.Gln63Glu) variant details
- p.Gln63Glu
- rs373178770
- ClinGen CA409942689
- ClinVar RCV000523249
- ClinVar RCV001857986
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- MetaLR 0.13
- MetaSVM -1.03
- CADD 16.10
- SIFT 0.62
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)