Q63K (p.Gln63Lys) variant of DYRK1A (Q13627)
Q63K (p.Gln63Lys) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
Q63K (p.Gln63Lys) variant details
- p.Gln63Lys
- rs373178770
- ClinGen CA10023722
- ClinVar RCV003852428
- ESP rs373178770
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- MetaLR 0.12
- MetaSVM -1.03
- CADD 18.70
- PolyPhen-2 0.06
- SIFT 0.37
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)