R44C (p.Arg44Cys) variant of DYRK1A (Q13627)
R44C (p.Arg44Cys) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- ExAC rs758573762
- gnomAD rs758573762
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- MetaLR 0.15
- MetaSVM -0.80
- CADD 25.50
- PolyPhen-2 0.45
- SIFT 0.18
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available