A18S (p.Ala18Ser) variant of DYRK1A (Q13627)
A18S (p.Ala18Ser) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 21-37472725-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- MetaLR 0.34
- MetaSVM -0.49
- CADD 24.10
- PolyPhen-2 0.97
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available