E40* (p.Glu40Ter) variant of LRRK2 (Q5S007)
E40* (p.Glu40Ter) in LRRK2 (Q5S007) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
E40* (p.Glu40Ter) variant details
- p.Glu40Ter
- gnomAD 12-40225249-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 39.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available