L16E (p.Leu16Glu) variant of LRRK2 (Q5S007)
L16E (p.Leu16Glu) in LRRK2 (Q5S007) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L16E (p.Leu16Glu) variant details
- p.Leu16Glu
- gnomAD 12-40225174-ACT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available