E40Q (p.Glu40Gln) variant of LRRK2 (Q5S007)
E40Q (p.Glu40Gln) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E40Q (p.Glu40Gln) variant details
- p.Glu40Gln
- gnomAD 12-40225249-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.01
- MetaLR 0.08
- MetaSVM -1.05
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available