P19S (p.Pro19Ser) variant of DYRK1A (Q13627)
P19S (p.Pro19Ser) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- ExAC rs776541736
- gnomAD rs776541736
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- MetaLR 0.34
- MetaSVM -0.47
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.10
- Most common in the South Asian population (allele frequency 8.2e-05)
- Structural context available