N47S (p.Asn47Ser) variant of DYRK1A (Q13627)
N47S (p.Asn47Ser) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
N47S (p.Asn47Ser) variant details
- p.Asn47Ser
- Ensembl rs1049760
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- MetaLR 0.06
- MetaSVM -1.08
- CADD 9.84
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available