E49E (p.Glu49Glu) variant of LRRK2 (Q5S007)
E49E (p.Glu49Glu) in LRRK2 (Q5S007) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E49E (p.Glu49Glu) variant details
- p.Glu49Glu
- rs1483067597
- gnomAD 12-40225278-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.131
- CADD 7.16
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available