S8L (p.Ser8Leu) variant of DYRK1A (Q13627)
S8L (p.Ser8Leu) in DYRK1A (Q13627) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
S8L (p.Ser8Leu) variant details
- p.Ser8Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- MetaLR 0.33
- MetaSVM -0.48
- CADD 29.30
- PolyPhen-2 0.94
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available