S49R (p.Ser49Arg) variant of DYRK1A (Q13627)
S49R (p.Ser49Arg) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S49R (p.Ser49Arg) variant details
- p.Ser49Arg
- gnomAD 21-37472820-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- MetaLR 0.09
- MetaSVM -1.02
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available