V15F (p.Val15Phe) variant of DYRK1A (Q13627)
V15F (p.Val15Phe) in DYRK1A (Q13627) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
V15F (p.Val15Phe) variant details
- p.Val15Phe
- ExAC rs780200883
- TOPMed rs780200883
- gnomAD rs780200883
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- MetaLR 0.34
- MetaSVM -0.47
- CADD 28.10
- PolyPhen-2 0.98
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available