R16W (p.Arg16Trp) variant of DYRK1A (Q13627)
R16W (p.Arg16Trp) in DYRK1A (Q13627) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R16W (p.Arg16Trp) variant details
- p.Arg16Trp
- rs1409541555
- ClinGen CA409942213
- NCI-TCGA Cosmic COSV5829
- cosmic curated COSV58292
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- MetaLR 0.28
- MetaSVM -0.59
- CADD 29.80
- PolyPhen-2 0.66
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available