Q51R (p.Gln51Arg) variant of DYRK1A (Q13627)
Q51R (p.Gln51Arg) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
Q51R (p.Gln51Arg) variant details
- p.Gln51Arg
- gnomAD 21-37472825-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- MetaLR 0.25
- MetaSVM -0.81
- CADD 22.20
- PolyPhen-2 0.89
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available