F21L (p.Phe21Leu) variant of DYRK1A (Q13627)
F21L (p.Phe21Leu) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
F21L (p.Phe21Leu) variant details
- p.Phe21Leu
- gnomAD 21-37472734-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- MetaLR 0.11
- MetaSVM -1.03
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available