E11K (p.Glu11Lys) variant of LRRK2 (Q5S007)
E11K (p.Glu11Lys) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- gnomAD 12-40225162-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.03
- MetaLR 0.09
- MetaSVM -1.00
- CADD 22.30
- PolyPhen-2 0.13
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available