R16Q (p.Arg16Gln) variant of DYRK1A (Q13627)
R16Q (p.Arg16Gln) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R16Q (p.Arg16Gln) variant details
- p.Arg16Gln
- rs1057175147
- ClinGen CA409942215
- ClinVar RCV000536161
- ClinVar RCV006264067
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- MetaLR 0.17
- MetaSVM -0.88
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.06
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: DYRK1A Syndrome. (PMID 26677511)