L17I (p.Leu17Ile) variant of DYRK1A (Q13627)
L17I (p.Leu17Ile) in DYRK1A (Q13627) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L17I (p.Leu17Ile) variant details
- p.Leu17Ile
- gnomAD 21-37472722-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- MetaLR 0.33
- MetaSVM -0.60
- CADD 25.10
- PolyPhen-2 0.95
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available