S8P (p.Ser8Pro) variant of DYRK1A (Q13627)
S8P (p.Ser8Pro) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S8P (p.Ser8Pro) variant details
- p.Ser8Pro
- gnomAD 21-37472695-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- MetaLR 0.32
- MetaSVM -0.44
- CADD 29.50
- PolyPhen-2 0.96
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available