I48I (p.Ile48Ile) variant of DYRK1A (Q13627)
I48I (p.Ile48Ile) in DYRK1A (Q13627) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
I48I (p.Ile48Ile) variant details
- p.Ile48Ile
- rs2052272230
- gnomAD 21-37472817-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 11.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available