S41N (p.Ser41Asn) variant of DYRK1A (Q13627)
S41N (p.Ser41Asn) in DYRK1A (Q13627) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S41N (p.Ser41Asn) variant details
- p.Ser41Asn
- rs754161665
- ExAC rs754161665
- gnomAD rs754161665
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- MetaLR 0.29
- MetaSVM -0.64
- CADD 25.10
- PolyPhen-2 0.92
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available