S8A (p.Ser8Ala) variant of DYRK1A (Q13627)
S8A (p.Ser8Ala) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S8A (p.Ser8Ala) variant details
- p.Ser8Ala
- gnomAD 21-37472695-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- MetaLR 0.29
- MetaSVM -0.52
- CADD 24.20
- PolyPhen-2 0.82
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available