R16L (p.Arg16Leu) variant of DYRK1A (Q13627)
R16L (p.Arg16Leu) 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 0.49 / 1. The record also includes population frequency data and structural context.
R16L (p.Arg16Leu) variant details
- p.Arg16Leu
- TOPMed rs1057175147
- gnomAD rs1057175147
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- MetaLR 0.16
- MetaSVM -0.80
- CADD 25.20
- PolyPhen-2 0.14
- SIFT 0.08
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available