A18V (p.Ala18Val) variant of DYRK1A (Q13627)
A18V (p.Ala18Val) 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 0.58 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10011
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- MetaLR 0.34
- MetaSVM -0.47
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available