V53F (p.Val53Phe) variant of DYRK1A (Q13627)
V53F (p.Val53Phe) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V53F (p.Val53Phe) variant details
- p.Val53Phe
- gnomAD 21-37472830-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- MetaLR 0.13
- MetaSVM -1.02
- CADD 24.20
- PolyPhen-2 0.34
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available