E28Q (p.Glu28Gln) variant of LRRK2 (Q5S007)
E28Q (p.Glu28Gln) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E28Q (p.Glu28Gln) variant details
- p.Glu28Gln
- gnomAD 12-40225213-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.11
- MetaLR 0.08
- MetaSVM -0.97
- CADD 23.50
- PolyPhen-2 0.31
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available