S14P (p.Ser14Pro) variant of DYRK1A (Q13627)
S14P (p.Ser14Pro) 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 and structural context.
S14P (p.Ser14Pro) variant details
- p.Ser14Pro
- ExAC rs771919737
- gnomAD rs771919737
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- MetaLR 0.36
- MetaSVM -0.33
- CADD 29.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available