L17R (p.Leu17Arg) variant of DYRK1A (Q13627)
L17R (p.Leu17Arg) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L17R (p.Leu17Arg) variant details
- p.Leu17Arg
- ExAC rs768615289
- gnomAD rs768615289
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- MetaLR 0.36
- MetaSVM -0.35
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available